PUBLICACIONES (Años Anteriores)

Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C.

JIMD Rep. (2018) 39:63-74.

Acidemias orgánicas. Diagnóstico y tratamiento de academia isovalérica, propiónica y metilmalónica.

M.A. Bueno Delgado, E. Castejón, A Moráis López, R. Yahyaoui Macías, B Merinero Cortés.

Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo Capítulo 2 ISBN:978-84-16732-98-2.

Enfermedad de orina de Jarabe de Arce.

I Vitoria Miñana, B Merinero , F Sánchez-Valverde Visus, D Gil Ortega, J Dalmau Serra.

Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo Capítulo 5 ISBN:978-84-16732-98-2.

Protocolo para el diagnóstico y tratamiento de tirosinemia tipo I.

M del Toro Riera, ML Couce Pico, L Aldámiz-Echevarría, J A Arranz, C Pérez-Cerdá, F Sánchez-Valverde.

Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo Capítulo 8 ISBN:978-84-16732-98-2.

Protocolo de diagnóstico y tratamiento de los trastornos de la biogénesis del peroxisoma y de su metabolismo.

C Pérez-Cerdá, I Vitoria, A García- Cazorla, C Sierra, A Sánchez, ML Girós.

Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo Capítulo 14 ISBN:978-84-16732-98-2.

Protocolo de diagnóstico y tratamiento de los defectos congénitos de la glicosilación.

C Pérez-Cerdá, M L Giros, M Serrano, B Pérez Dueñas, MJ Ecay, C Medrano, L Gort, B Pérez González.

Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo Capítulo 16 ISBN:978-84-16732-98-2.

Protocolo de diagnóstico y tratamiento de los defectos congénitos de la glicosilación.

C Pérez-Cerdá, M L Giros, M Serrano, B Pérez Dueñas, MJ Ecay, C Medrano, L Gort, B Pérez González.

Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo Capítulo 16 ISBN:978-84-16732-98-2.

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.

S Brasil, A Briso-Montiano, A Gámez, J Underhaug, M I Flydal, L Desviat, B Merinero, M Ugarte, A Martinez, B Pérez.

Biochim Biophys Acta Mol Basis Dis(2018) 1864(2):640-648.

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

Eva Richard, Lorena Gallego-Villar, Ana Rivera-Barahona, Alfonso Oyarzábal, Belén Pérez, Pilar Rodríguez-Pombo, Lourdes R Desviat.

Oxid Med Cell Longev.(2018).

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, García Ó, Cancho-Candela R, Carrasco-Marina ML, Gutiérrez-Solana LG, Cuadras D, Muchart J, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Macaya A, Fernández-Fernández JM, Serrano M.

Int J Mol Sci. (2018) 19(2): 619.

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5′ splice site.

Martínez-Pizarro A, Dembic M, Pérez B, Andresen BS, Desviat LR.

PLoS Genet. (2018) 14(4) e1007360.

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

E Richard, S Brasil, A Briso-Montiano, E Alonso-Barroso, ME Gallardo, B Merinero, M Ugarte, LR Desviat, B Pérez.

Stem Cell Res. (2018) 29:143-147.

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez.

Orphanet J Rare Dis. (2018).

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR.

Mol Genet Metab.(2018) 125(3):266-275.

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

Hamilton V, Santa María L, Fuenzalida K, Morales P, Desviat LR, Ugarte M, Pérez B, Cabello JF, Cornejo V.

JIMD Rep.(2018) 42:71-77.

Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.

Klaassen K., Djordjevic M., Skakic A., Desviat L.R., Pavlovic S., Perez B., Stojiljkovic M.

Biochem Genet.(2018) 56(5):533-541.

Novel treatments in neurometabolic diseases: the importance of chaperones.

B Pérez.

Rev Neurol.(2018) 66:43-46.

Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.

Pérez-Cabeza MI, Borrás F, Moreno-Medinilla EE, Bardán-Rebollar D, Ferrer-López I, Rodríguez-García E, Jiménez-Machado R, Castro-Vega I, Benito C, Escudero J, Yahyaoui R.

J AAPOS(2018) 23(2):102-104

Congenital disorders of glycosylation (CDG): Quo vadis?.

Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J.

Eur J Med Genet. (2018) 61(11):643-663.

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

Itzep D, Martínez-Monseny AF, Bolasell M, Cuadras D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M; CDG Spanish-Consortium.

Neuropediatrics.(2018) 49(6):408-413.

Protein misfolding diseases: prospects of pharmacological treatment.

Alejandra Gámez, Patricia Yuste-Checa, Sandra Brasil, Álvaro Briso-Montiano, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez.

Clin Genet. (2018)93(3):450-458.

Isolated and combined remethylation disorders: biochemical and genetic diagnosis and Pathophysiology.

Eva Richard, Sandra Brasil, Fatima Leal, Ana Vega, Maria Jesús Ecay, Lourdes R Desviat, Celia Pérez-Cerdá, Magdalena Ugarte, Begoña Merinero, Belén Pérez.

J Inborn Errors Metab Screen.(2017)5;1-11 | Resumen

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR II, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL.

Genet Med. (2017) 19(1) 104-111 | Resumen

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B.

Hum Mutat. (2017) 38(2):160-168 | Resumen

A population-Based study on congenital disorders of protein N-combined with O-glycosylation experience in clinical and genetic diagnosis.

Celia Pérez-Cerdá, Mª Luisa Girós, Mercedes Serrano, MªJesús Ecay, Laura Gort, Belén Pérez Dueñas, Celia Medrano, Alfredo García-Alix, Rafael Artuch, Paz Briones, Belén Pérez.

J Pediatr. (2017)183:170-177 | Resumen

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C.

J Hum Genet. (2017) 62(3):355-360 | Resumen

Nonketotic Hyperglycinemia: functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Bravo-Alonso I,Navarrete R,Arribas-Carreira L,Perona A,Abia D,Couce ML,García-Cazorla A,Morais A,Domingo R,Ramos MA,Swanson MA,Van Hove JL,Ugarte M,Pérez B,Pérez-Cerdá C,Rodríguez-Pombo P.

Hum Mutat. (2017) 38(6):678-69 | Resumen

Bases moleculares y cromosómicas de las enfermedades genéticas. Capitulo 1- Parte 2: Genética molecular de enfermedades metabólicas hereditarias y herramientas diagnósticas más usadas en genética molecular.

Belén Pérez G, Lourdes R Desviat.

Errores innatos en el metabolismo del niño.(2017) ISBN:978-956-11-2533-9.

Bases moleculares y cromosómicas de las enfermedades genéticas. Capitulo 3- Parte 2: Deficiencia de Pterinas.

Belén Pérez G, Lourdes R. Desviat, Mercedes Martínez P.

Errores innatos en el metabolismo del niño(2017) ISBN:978-956-11-2533-9.

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome.

M Bellusci, P Quijada-Fraile, D Barrio-Carreras, E Martin-Hernández, M Garcia-Silva, B Merinero, B Pérez, A Hernández-Lain.

J Inherit Metab Dis. (2017) 40(5);751-752 | Resumen

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DH, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol.(2017) 28(8):2529-2539 | Resumen

Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C.

JIMD Rep. (2017) | Resumen

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

De Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M.

J Inherit Metab Dis. (2017) 40(5):753-754 | Resumen

Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.

Ibáñez-Micó S, Domingo Jiménez R, Pérez-Cerdá C, Ghandour-Fabre D.

Neurología (Engl Ed). (2017) S0213-4853(17):30213-30215 | Resumen

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A.

Clin Genet (2017) 92(3):306-3175 | Resumen

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.

Rivera-Barahona A, Fulgencio-Covián A, Pérez-Cerdá C, Ramos R, Barry MA, Ugarte M, Pérez B, Richard E, Desviat LR..

Sci Rep. (2017) 7(1):5727 | Resumen

Generation and characterization of a human iPSC line froma patient with propionic acidemia due to defects in the PCCA gene.

Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R Desviat, Eva Richard.

Stem Cell Res. (2017) 23:173-177 | Resumen

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

Yuste-Checa P, Vega AI, Martín-Higueras C, Medrano C, Gámez A, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B.

PLoS One. (2017)12(6):e0179456 | Resumen

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

Serrano NL, de Diego V, Cuadras D, Martinez Monseny AF, Velázquez-Fragua R, López L, Felipe A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M, CDG Spanish-Consortium.

Orphanet J Rare Dis. (2017) 12(1);155 | Resumen

Urine oligosaccharide tests for the diagnosis of oligosaccharidoses.

Mercedes Casado, Isaac Ferrer-López, Pedro Ruiz-Sala, Celia Pérez-Cerdá, Rafael Artuch.

Reviews in Analytical Chemistry. (2017) 36:3.

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

V Hamilton, L Santa María, K Fuenzalida, P Morales, L R Desviat, M Ugarte, B Pérez, J F Cabello, V Cornejo.

JIMD Rep. (2017) | Resumen

Protein misfolding diseases: prospects of pharmacological treatment.

Alejandra Gámez, Patricia Yuste-Checa, Sandra Brasil, Álvaro Briso-Montiano, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez.

Clin Genet. (2017)93(3):450-458 | Resumen

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B.

Ann Neurol.(2017) 82(3):317-330 | Resumen

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. (2017) 48(3):166-184 | Resumen

Role of miRNAs in human diseases and in Inborn Errors of Metabolism.

A Rivera-Barahona, B Pérez, E Richard, L R Desviat.

J Inherit Metab Dis. (2017) 40(4):471-480 | Resumen

Delivery is key: lessons learnt from developing splice switching antisense therapies

C Godfrey, L R Desviat, B Smedsrød, F Piétri-Rouxel, M A Denti, P Disterer, S Lorain, G Nogales-Gadea, V Sardone, R Anwar, S El Andaloussi, T Lehto, B Khoo, C Brolin, W M C Van Roon-Mom, A Goyenvalle, A Aartsma-Rus, V Arechavala-Gomeza.

EMBO Mol Med. (2017) 9(5):545-557 | Resumen

Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.

A Rivera-Barahona, E Alonso-Barroso, B Pérez, MP Murphy, E Richard, L R Desviat.

Mol Genet Metab. (2017) 122(1-2):43-50 | Resumen

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR II, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL.

Genet Med. (2017) 19(1):104-111| Resumen

Mitochondrial response to the BCKDK-deficiency Some clues to understand the positive dietary response in this form of autism.

A.Oyarzabal, I.Bravo-Alonso, M.Sánchez-Aragó, M.T.Rejas, B.Merinero, A.García-Cazorla, R.Artuche, M.Ugarte, P.Rodríguez-Pombo.

Biochim Biophys Acta. (2016) Apr;1862(4):592-600 | Resumen

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.

Martínez-Pizarro A, Desviat LR, Ugarte M, Pérez B, Richard E.

PLoS One (2016) 9;11(3):e0150357 | Resumen

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Vega AI, Medrano C, Navarrete R, Desviat LR, Merinero B, Rodríguez-Pombo P, Vitoria I, Ugarte M, Pérez-Cerdá C, Pérez B.

Genet Med. (2016) Oct;18(10):1037-43 | Resumen

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

VStojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Pérez B.

Clin Genet. (2016) 90(3):252-257 | Resumen

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ.

Am J Hum Genet.s (2016) 98(2):310-321 | Resumen

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O’Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B.

Orphanet J Rare Dis. (2016) 10:138 | Resumen

Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

Luis Aldámiz-Echevarría, Marta Llarena, María A Bueno, Jaime Dalmau, Isidro Vitoria, Ana Fernández-Marmiesse, Fernando Andrade, Javier Blasco, Carlos Alcalde, David Gil, María C García, Domingo González-Lamuño, Mónica Ruiz, María A Ruiz, Luis Peña-Quintana, David González, Felix Sánchez-Valverde, Lourdes R Desviat, Belen Pérez, María L Couce.

J Hum Genet. (2016) 61(8): 731-744 | Resumen

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

Sala PR, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden MG, Garcia-Villoria J, Heiner-Fokkema MR, Jeannesson-Thivisol E, Leckstrom K, Franzson L, Lynes G, Olesen J, Onkenhout W, Petrou P, Drousiotou A, Ribes A, Vianey-Saban C, Merinero B.

JIMD Rep. (2016) 30:23-31| Resumen

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.

Bravo-Alonso I, Oyarzabal A, Sánchez-Aragó M, Rejas M.T, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P.

Data in Brief. (2016) 15(7):755-9 | Resumen

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C.

J Hum Genet. (2016) 62(3):355-360|  Resumen

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B.

Mitochondrion. (2016) 28:73-78 | Resumen

Treatment of genetic defects of thiamine transport and metabolism.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B.

Expert Rev Neurother. (2016) 16(7):755-763 | Resumen

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B.

Brain. (2016) 139(Pt 1):31-8 | Resumen

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature.

Isidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, María Bueno, Pilar Quijada-Fraile, Jaime Dalmau, Sofia Molina-Marrero, Belén Pérez,Begoña Merinero.

Journal of Inherited Metabolic Disease(2015) 20:11-20 | Resumen

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

Alcaide P, Krijt J, Ruiz-Sala P, Ješina P, Ugarte M, Kožich V, Merinero B.

Clinica Chimica Acta(2015)438:261-265 | Resumen

Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.

Ana Rivera-Barahona, Rocío Sánchez-Alcudia ,Hiu Man Viecelli,Veronique Rüfenacht,Belén Pérez,Magdalena Ugarte,Johannes Häberle,Beat Thöny,Lourdes Ruiz Desviat.

PLOS ONE(2015) 10(4):e0122966 | Resumen

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B.

Human Mutation(2015) 36(9):851-860 | Resumen

El laboratorio en el diagnóstico de las enfermedades metabólicas hereditarias. Impacto de las nuevas tecnologías.

Celia Pérez-Cerdá, Belén Pérez.

Revista del laboratorio clínico(2015) 8:67-81 | Resumen

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.

Vallejo-Torres L, Castilla I, Couce ML, Pérez-Cerdá C, Martín-Hernández E, Pineda M, Campistol J, Arrospide A, Morris S, Serrano-Aguilar P.

Pediatrics. (2015) 136(2):424-432 | Resumen

Enfermedades recomendadas para ser incluidas en los programas de cribado neonatal.

José Luís Marín Soria, Daisy E. Castiñeiras Ramos, Asunción Fernández Sánchez, Mª. Jesús Juan Fita, Luís Manuel Jiménez Jiménez, Celia Pérez-Cerdá.

Manual clínico del cribado metabolic. Capitulo 9 ISBN:978-16183-83-8.

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Iliana Matos, Vânia Gonçalves, Eugénia Pinto, Francisco Laranjeira, Maria João Prata, Peter Jordan, Lourdes R.Desviat, Belén Pérez, Sandra Alves.

Biochimica et Biophysica Acta(2015) 1852(12):2712-2721 | Resumen

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, Alfons Macaya Ramón Velázquez, M. Pilar Poo1, Carmen Fons, M. Mar O’Callaghan, Angels García-Cazorla, Cristina Boix, Bernabé Robles, Francisco Carratalá, Marisa Girós, Paz Briones, Laura Gort, Rafael Artuch, Celia Pérez-Cerdá, Jaak Jaeken, Belén Pérez, Belén Pérez-Dueñas.

Orphanet Journal of rare diseases(2015) | Resumen

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Martina Huemer, Viktor Kožich, Piero Rinaldo, Matthias R. Baumgartner, Begoña Merinero, Elisabetta Pasquini, Antonia Ribes, Henk J.

Blom.Journal of Inherited Metabolic Disease (2015) 38(6):1007-1019 | Resumen

Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.

Isaac Ferrer-López, Pedro Ruiz-Sala, Begoña Merinero, Celia Pérez-Cerdá, Magdalena Ugarte.

Journal of Chromatography B (2014) 944:141-143. | Resumen

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X.

European Journal of Human Genetics (2014) 22(4):528-534. | Resumen

Antisense mediated splicing modulation for inherited metabolic diseases: Challenges for delivery.

Belen Pérez, Lluisa Vilageliu, Daniel Grinberg, Lourdes Ruiz Desviat.

Nucleic Acid Therapeutics (2014) 24:48-56. | Resumen

Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients.

García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB.

Human Mutation (2014) 35(4):470-477. | Resumen

Antisense mediated therapeutic pseudoexon skipping in TMEM165-CDG.

Yuste Patricia, Medrano Celia, Gamez Alejandra, Desviat Lourdes,, Matthijs Gert, Ugarte Magdalena, Pérez-Cerdá Celia, Pérez Belén.

Clinical Genetics(2014) 87:42-48. | Resumen

Methylmalonic Aciduria Cblb Type. Characterization of two novel mutations and mitochondrial dysfunction studies.

Brasil S, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat L, Ugarte M, Perez B.

Clinical Genetics(2014) | Resumen

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Sarah Wettstein, Jarl Underhaug, Belen Perez, Brian D Marsden, Wyatt W Yue, Aurora Matinez and Nenad Blau.

European Journal of Human Genetics (2014) 23(3):302-309 | Resumen

Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.

Castro M, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, Vega AI, Ruíz Desviat L, Pérez B, Pérez-Cerdá C, Merinero B, Ugarte M.

Nucleosides, Nucleotides, and Nucleic Acids (201)33(4-6):233-240. | Resumen

Severe pulmonary hypertension: Starting manifestation of a new deficiency of the lipoic acid metabolism.

Lacasa Maseri A, Yun Castilla C, Mota Ybancos JL, Rodríguez-Pombo P.

Medicina Clínica (2014) 143(9):423-424. | Resumen

Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Ortigoza-Escobar JD, Serrano M, Molero M, Oyarzabal A, Rebollo M, Muchart J, Artuch R, Rodríguez-Pombo P, Pérez-Dueñas B.

Orphanet Journal of rare diseases (2014) 9:92 | Resumen

Deficiencia de holocarboxilasa sintetasa de presentación tardía con actividad piruvto carboxilasa normal.

I Victoria, D Rausell, I Gonzalez, C Pérez-Cerdá, J Dalmau.

Anales de pediatría (Barcelona) (2014) 80(3):184-186. | Resumen

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

Alcaide P, Krijt J, Ruiz-Sala P, Ješina P, Ugarte M, Kožich V, Merinero B.

Clinica Chimica Acta (2014) 438:261-265 |Resumen

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Matthias R Baumgartner, Friederike Hörster, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Kimberly A Chapman, Carlo Dionisi-Vici, Brian Fowler, Sarah Grünert, Stephanie Grünewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Martina Huemer, Daniela Karall, Anita MacDonald, Diego Martinelli, Begoña Merinero, Celia Pérez-Cerdá, Jörn Oliver Sass, Sabine Scholl-Bürgi, Flemming Skovby, Vassili Valayannopoulos, Frits Wijburg and Anupam Chakrapani.

Orphanet Journal of rare diseases (2014) 9:130 | Resumen

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Martín-Hernández Elena, Aldámiz-Echevarría Luis, Castejón-Ponce Esperanza, Pedrón-Giner Consuelo, Couce María, Serrano-Nieto Juliana, Pintos-Morell Guillem, Bélanger-Quintana Amaya, Martínez-Pardo Mercedes, García-Silva María, Quijada-Fraile Pilar, Vitoria-Miñana Isidro, Dalmau Jaime, Lama-More A Rosa, Bueno-Delgado María, del Toro-Riera Mirella, García-Jiménez Inmaculada, Sierra-Córcoles Concepción, Ruiz-Pons Mónica, Peña-Quintana J Luis, Vives-Piñera Inmaculada, Moráis Ana, Balmaseda-Serrano Elena, Meavilla Silvia, Sanjurjo-Crespo Pablo, Pérez-Cerdá Celia.

Orphanet Journal of Rare Diseases (2014) 9(1):187 | Resumen

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins MSUD.

P Fernández-Guerra, RID Birkler, B Merinero, M Ugarte, N Gregersen, P Rodríguez-Pombo, P Bross, J Palmfeldt.

Molecular Genetics and Genomics medicine (2014) 2(5):383-292 | Resumen

Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia.

Maja Stojiljkovic *, Kristel Klaassen , Maja Djordjevic , Adrijan Sarajlija , Bozica Kecman ,Milena Ugrin , Branka Zukic , Lourdes R. Desviat , Sonja Pavlovic and Belen Perez.

Journal of Pediatric Endocrinology and Metabolism (2014) | Resumen

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.

Liliana Matos, Isaac Canals, Larbi Dridi, Yoo Choi, Maria João Prata, Peter Jordan, Lourdes R Desviat, Belén Pérez, Alexey V Pshezhetsky, Daniel Grinberg, Sandra Alves and Lluïsa Vilageliu.

Orphanet Journal of Rare Diseases (2014) 9(1):180 | Resumen

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts.

Gallego-Villar L, Pérez B, Ugarte M, Desviat LR, Richard E.

Biochem Biophys Res Commun (2014) 452(3):457-461 | Resumen

A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver.

Gallego-Villar L, Viecelli HM, Pérez B, Harding CO, Ugarte M, Thöny B, Desviat LR.

Molecular Therapy Nucleic Acids (2014) 3e:193 | Resumen

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

G Gündüz M1, Ekici F, Özaydın E, Ceylaner S, Perez B.

European Journal of pediatrics(2014) 173(12):1707-10 | Resumen

Bases moleculares de las enfermedades metabólicas hereditarias.

B. Pérez González, L. Ruiz Desviat, M. Ugarte Pérez.

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias.

Hiperfenilalaninemias por déficit del cofactor BH4.

M. Martínez-Pardo Casanova, M.J. García Muñoz.

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias.

Acidemia Isovalérica. Alteraciones del catabolismo de leucina y valina.

B. Merinero Cortés, C. Pérez-Cerdá Silvestre.

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias.

Alteraciones del metabolismo de la biotina. Alteraciones del metabolismo de la tiamina.

C.Pérez-Cerdá Silvestre, B. Merinero Cortés.

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias.

Introducción a los trastornos genéticos del metabolismo.

E Martin, B Merinero.

Cruz. Tratado de Pediatría.

Errores congénitos del metabolismo de la cobalamina y el folato.

C Delgado Pecellín, M Conde Sánchez, MA Bueno Delgado, B Merinero Cortés.

Manual de Medicina Perinatal. Estudio de los Errores Congénitos del Metabolismo en el Laboratorio Clínico.

cblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn period.

Daniel Palanca, Angels Garcia-Cazorla, Jessica Ortiz, Cristina Jou, Victoria Cusí, Mariona Suñol, Susana Rives , Belén Perez , Aida Ormazabal , Brian Fowler, Rafael Artuch.

Journal of Inherited Metabolic Disease (2013) 8:57-62. | Resumen

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.

Richard E, Desviat LR, Ugarte M, Pérez B.

Journal of Cellular Biochemistry (2013) 114(1) 183-191. | Resumen

Clinical Biochemical and molecular studies in pyridoxine-dependent epilepsy. antisense therapy as possible new therapeutic option.

Belén Pérez, Luis González Gutiérrez-Solana, Alfonso Verdú, Begoña Merinero, Patricia Yuste-Checa, Pedro Ruiz-Sala, Rocio Calvo, Anil Jalan, Laura López Marín, Oscar Campos, Maria Ángeles Ruiz, Marta San Miguel, Maria Vázquez, Margarita Castro, Isaac Ferrer, Rosa Navarrete, Lourdes Ruiz Desviat, Pablo Lapunzina, Magdalena Ugarte and Celia Pérez-Cerdá.

Epilepsia (2012) 54(2) 239-248. | Resumen

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

C. Amoroso, E. Vallespín, L. Fernández, L.F. Arrabal, L.R.Desviat, B. Pérez, F. Santos, J. Solera.

Gene (2013) S0378-1119(13) 124-128. | Resumen

Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report.

Lubrano R, Bellelli E, Gentile I, Paoli S, Carducci C,Santagata S, Pérez B, Ugarte M, Labriola D, Elli M.

American Journal of transplantation (2013) En prensa | Resumen

Molecular epidemiology and genotype–phenotype correlation in phenylketonuria patients from South Spain.

María A Bueno, Domingo González-Lamuño, Carmen Delgado-Pecellín, Luís Aldámiz-Echevarría, Belén Pérez, Lourdes R Desviat and María L Couce.

J Hum Genet (2013) | Resumen

A novel regulatory defect in the Branched-Chain Alpha-ketoacid dehydrogenase complex due to a mutation in the PPM1k Gene causes a mild variant phenotype of maple Syrup Urine disease.

Oyarzabal A, Martínez-Pardo M, Merinero B, Navarrete R Desviat LR, Ugarte M, Rodríguez-Pombo P.

Humman Mutation (2013) 34(2): 355-362 | Resumen

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

Couce ML, Bóveda MD, Fernández- Marmiesse A, Mirás A, Pérez B, Desviat LR, Fraga JM.

Gene (2013) 521(1):100-104 | Resumen

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Brasil S, Underhaug J, Ruíz-Sala P, Merinero B, Banerjee R, Desviat LR, Ugarte M, Martinez A, Pérez B.

Humman Molecular Genetics 15;22(18):3680-9 | Resumen

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase.

Puisac B, Teresa-Rodrigo ME, Arnedo M, Gil-Rodríguez MC, Pérez-Cerdá C, Ribes A, Pié A, Bueno G, Gómez-Puertas P, Pié J.

Mol Genet Metab(2013) 108(4):232-40 | Resumen

Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect.

Parini R, Furlan F, Brambilla A, Codazzi D, Vedovati S, Corbetta C, Fedeli T, Merinero B, Pérez B, Ugarte M.

Journal of Inherited Metabolic Disease(2013) 11:133-137 | Resumen

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Mireia Tondo , Eduardo Calpena, Gema Arriola, Paloma Sanz, Loreto Martorell, Aida Ormazabal,Belen Perez-Dueñas, Celia Pérez-Cerda Esperanza Castejon,Manuel Palacin, Magdalena Ugarte, Carmen Espinos , Belen Perez ,Rafael Artuch.

Mol Genet Metab(2013) S1096-7192(13):223-30 | Resumen

Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency.

C. Ortez, C. Jouc, E. Cortès-Saladelafont, J.Morenod, A. Pérez, A. Ormazábal,C. Pérez-Cerdá, B. Pérez, R. Artuch, V. Cusi , García-Cazorla A.

Gene(2013) S0378-1119(13):1066-1074 | Resumen

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.

Pérez-Carro R, Sánchez-Alcudia R, Pérez B, Navarrete R, Pérez-Cerdá C, Ugarte M, Desviat L.

Clinical Genetics(2013) | Resumen

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X.

Journal of Human Genetics(2013) | Resumen

Mutation analysis in 54 propionic acidemia patients

Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO.

Journal of Inherited Metabolic Disease (2012) 35(1):51-63 | Resumen

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.

Pérez B, Nevado J, Lapunzina P, Gallego L, Pérez-Cerdá C, Merinero B, Ugarte M, Desviat LR

Molecular Genetics and Metabolism (2012) 105(2):270-271 | Resumen

Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia).

Pérez B, Nevado J, Lapunzina P, Gallego L, Pérez-Cerdá C, Merinero B, Ugarte M, Desviat LR.

Cerebellum (2012) 11(2):557-563 | Resumen

Novel features in the evolution of adenylosuccinate lyase deficiency.

Pérez-Dueñas B, Sempere A, Campistol J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR, Artuch R.

European Journal of Paediatric Neurology (2012) 16(4):343-348 | Resumen

Minigenes to confirm exon skipping mutations.

Desviat LR, Pérez B, Ugarte M

Methods in Molecular Biology (2012) 867:37-47 | Resumen

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.

Giménez C, Pérez-Siles G, Martínez-Villarreal J, Arribas-González E, Jiménez E, Núñez E, de Juan-Sanz J, Fernández-Sánchez E, García-Tardón N, Ibáñez I, Romanelli V, Nevado J, James VM, Topf M, Chung SK, Thomas RH, Desviat LR, Aragón C, Zafra F, Rees MI, Lapunzina P, Harvey RJ, López-Corcuera B.

Journal of Biological Chemistry (2012) 287(34): | Resumen

Feasibility of nonsense mutations readthrough as a novel therapeutical approach in propionic acidemia.

Sánchez-Alcudia R, Pérez B, Ugarte M, Desviat LR.

JHuman Mutation (2012) 33(6):973-980 | Resumen

Oxidative stress and apoptosis in homocystinuria patients whit genetic remethylation defects.

E Richard, Desviat LR, Ugarte M, Pérez B.

Journal of Cellular Biochemistry (2012) | Resumen

A Novel congenital disorder of glycosylation type without central nervous system involvemet caused by mutations in the phosphoglucomutase 1 gene.

Pérez B, Medrano C, Ecay MJ, Ruiz-Sala P, Martínez-Pardo M, Ugarte M, Pérez-Cerdá.

Journal of Inherited Metabolic Disease (2012) | Resumen

Readthrough Strategies for therapeutic Suppression of nonsense mutations in inherited metabolic disease.

B Pérez, P Rodríguez-Pombo, M Ugarte, LR Desviat.

Molecular Syndromology (2012) 3:230-236 | Resumen

Wernicke-like encephalopathy during classic maple syrup urine disease decompesation.

Manara R, Del Rizzo M, Burlina AP, Bordugo A, Citton V, Rodríguez-Pombo P, Ugarte M, Burlina AB.

Journal of Inherited Metabolic Disease (2012) 35:413-417 | Resumen

DPAGT1-CDG: Report of a Patient With Fetal Hypokinesia Phenotype.

Ignacio Arroyo Carrera, Gert Matthijs,Belen Pérez,Celia Pérez Cerdá.

American Journals of medicals genetics (2012) 158A:2027-2030 | Resumen

Clinical Biochemical and molecular studies in pyridoxine-dependent epilepsy. antisense therapy as possible new therapeutic option.

Belén Pérez, Luis González Gutiérrez-Solana, Alfonso Verdú, Begoña Merinero, Patricia Yuste-Checa, Pedro Ruiz-Sala, Rocio Calvo, Anil Jalan, Laura López Marín, Oscar Campos, Maria Ángeles Ruiz, Marta San Miguel, Maria Vázquez, Margarita Castro, Isaac Ferrer, Rosa Navarrete, Lourdes Ruiz Desviat, Pablo Lapunzina, Magdalena Ugarte and Celia Pérez-Cerdá.

Epilepsia.

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

C. Amoroso, E. Vallespín, L. Fernández, L.F. Arrabal, L.R.Desviat, B. Pérez, F. Santos, J. Solera.

Gene

Mitochondrial organic acidurias: Part I: Biochemical and molecular basis.

Begoña Merinero, Celia Pérez-Cerdá, Lourdes R. Desviat. Belén Pérez. Pilar Rodriguez-Pombo, Eva Richard and Magdalena Ugarte.

Mitochondrial Pathophysiology. Susana Cadenas y Francesc Palau Eds. 2011:173-191. ISBN:978-81-7895-514-8.

Mitiochondrial organic acidurias: Part II:Mitochondrial dysfunction.

Begoña Merinero, Celia Pérez-Cerdá, Lourdes R. Desviat. Belén Pérez. Pilar Rodriguez-Pombo, Eva Richard and Magdalena Ugarte.

Mitochondrial Pathophysiology. Susana Cadenas y Francesc Palau Eds. 2011:173-191. ISBN:978-81-7895-514-8.

Overexpression of adapted U1snRNA in patients´cells to correct a 5´ splice site mutation in propionic acidemia.

Rocio Sánchez-Alcudia, Belén Pérez, Celia Pérez-Cerdá, M. Ugarte, Lourdes R. Desviat.

Molecular Genetics and Metabolism (2011) 102(2):134-8 | Resumen

Defining the pathogenicity of creatine deficiency sindrome.

Patricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, Eva Richard, Rosa Navarrete, Angela Arias, Antonia Ribes, Rafael Artuch, Jaume Campistol, Magdalena Ugarte, Pilar Rodriguez-Pombo.

Humman Mutation (2011) 32:1-10 | Resumen

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency-congenital disorder of glycosylation.

Ana Isabel Vega, Celia Pérez-Cerdá, David Abia, Alejandra Gámez, Paz Briones, Rafael Artuch, Lourdes R. Desviat, Magdalena Ugarte and Belén Pérez.

Journal of Inherited Metabolic Disease (2011) 34(4):929-939 | Resumen

The molecular landscape of phosphomannose mutase deficiency in Iberian Peninsula: identification of fifteen population-specific mutations.

Pérez B, Briones P, Quelhas D, Artuch R, Vega A, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C.

Journal of Inherited Metabolic Disease (2011) 34(5) 1103-1111.

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR.

Neurogenetics (2011) 12(3):183-191 | Resumen

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.

Brasil S, Viecelli HM, Meili D, Rassi A, Desviat LR, Pérez B, Ugarte M Thony B.

Human Mutation (2011) 32(9):1019-1027 | Resumen

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Christina Lam, Lourdes R. Desviat, Celia Pérez-Cerdá, Magdalena Ugarte, Bruce A. Barshop, StephenCederbaum.

Molecular Genetics and Metabolism (2011) 103(4):338-340 | Resumen

Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening for hearing loss or inherited metabolic disease.

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.

MMedicina Clínica 137(11):500-503 | Resumen

Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

Yahyaoui R, Espinosa MG, Gómez C, Dayaldasani A, Rueda I, Roldan A, Ugarte M, Lastra G, Pérez V.

Molecular Genetics and Metabolism (2011) 104(3):414-416 | Resumen

Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.

Dahri S, Desviat LR, Pérez B, Leal F, Ugarte M, Chabraoui L.

Clinical Biochemistry (2010) 43(1-2):76-81. | Resumen

Dos hermanos afectos de déficit de succínico semialdehido deshidrogenasa con distinta afectación clínica. Disminución de los niveles 4-OH-butírico con dosis bajas de vigabatrina.

G.Iglesias, I.Ferrer, LL.Carrasco, P.Ruíz Sala, C.Jakobs, C.Pérez-Cerdá.

Anales de Pediatría (Barcelona) (2010). 72(2):128-132. | Resumen

Mitochondrial bioenergetics and dynamics interplay in complex i-deficient fibroblasts.

Morán M, Rivera H, Sánchez-Aragó M, Blázquez A, Merinero B, Ugalde C, Arenas J, Cuezva JM, Martín MA.

Biochimica et Biophysica Acta. (2010) 1802:443-453 | Resumen

“A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene”.

P Alcaide, P Rodriguez-Pombo, P Ruiz Sala, I Ferrer, P Castro, Y Ruiz Martin, B Merinero, M Ugarte.

Dev Med & Child Neurol (2010) 52(2):215-217 | Resumen

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, García-Cazorla A, Vilaseca MA, Ribes A, Artuch R, Campistol J.

J Inherit Metab Dis. (2010) 33(1):1-7 | Resumen

Marked mitochondrial DNA depletion associated with a novel SUCLG1 genemutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

Henry Rivera, Begoña Merinero, Mercedes Martinez-Pardo, Ignacio Arroyo, Pedro Ruiz-Sala, Belen Bornstein, Clara Serra-Suhe, Esther Gallardo, Ramón Marti, Maria J. Moran, Cristina Ugalde, Luis A. Perez-Jurado, Antoni L Andreu , Rafael Garesse, Magdalena Ugarte, Joaquin Arenas, Miguel A. Martin.

Mitochondrion (2010) 10(4)362-368 | Resumen

«Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient»

Dimitra Lianou. Lorena Gallego, Helen Michelakakis, Celia Pérez-Cerdá, Belén Pérez, Stavroula Ginis Cornelis Jakobs, Magdalena Ugarte, Lourdes R Desviat.

Clínica Chimica Acta (2010) 411(17-18):1388-9 |  Resumen

Functional and structural Analysis of five mutations identified in Methylmalonic aciduria cblB type.

A. Jorge-Finnigan, C. Aguado, R. Sánchez-Alcudia, D. Abia, E. Richard, B. Merinero, R. Banerjee, L.R. Desviat, M. Ugarte, B. Pérez.

Human Mutation (2010) 31(9):1033-42 | Resumen

Present and future of antisense therapy for splicing modulation in Inherited Metabolic Disease”.

B. Pérez, L. Rodríguez-Pascau, L. Villageliu, D. Grinberg, M. Ugarte, L.R. Desviat.

J Inherit Metab Dis (2010) 33(4):397-403 | Resumen

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

B. Pérez, C. Angaroni, R. Sánchez-Alcudia, B. Merinero, C. Pérez-Cerdá, N. Specola, P. Rodríguez-Pombo.

J Inherit Metab Dis (2010) 33(Suppl2):S307-14 | Resumen

Programas de cribado neonatal en España.

J.L Marín Soria, L.Aldamiz-Echevarría, D.E Castiñeiras Ramos, J Dalmau Serra, A. Fernández Sánchez, D. González Lamuño, Mª. J. Juan Fita, L. M Jiménez y C. Pérez-Cerdá.

Real Patronato sobre Discapacidad, Ed.2010.Madrid, España ISBN: 842-10-010-2.

Prevencion de errores congénitos del metabolismo.

Magdalena Ugarte.

En prevención de deficiencias.Real Patronato sobre Discapacidad, Ed.2010.Madrid, España ISBN: 842-09-008-4.

Functional characterizacion of the novel intronic nucleotide change c.288+9c>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.

Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez Pombo P.

Journal of Inherited Metabolic Disease(2010) en prensa | Resumen

Differential HMG-CoA Iyase expression in humman tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

Beatriz Puisac, María Pilar Ribate, Tomás Castiella, Feliciano J. Ramos, Antonia Ribes, Celia Pérez-Cerdá, Nuria Casals, Fausot G. Hergardt and Juan Pié.

Journal of Inherited Metabolic Disease(2010) 33(4):405-410.

Congenital disorder of glycosylation Ia: New differentially expressed proteins identified by 2-DE.

Richard E, Vega AI, Pérez B, Roche C, Velázquez R, Ugarte M, Pérez-Cerdá C.

Biochemical and Biophysical Research Communications (2009) 379(2): 267-271 | Resumen

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

Vega AI, Pérez-Cerdá C, Desviat LR, Matthijs G, Ugarte M, Pérez B.

Human Mutation (2009) en prensa. | Resumen

«Acute fatty of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency»

C. Junquera-Gutiérrez, E.Balmaseda, E.Gil, A.Martínez, M. Sorli, I.Cuartero, B.Merinero, M. Ugarte.

European Journal of Pediatrics (2009) 168(1): 103-106 | Resumen

Study of patients and carriers with 2-methyl-3hydroxylbutyryl-CoA dehydrogenase (MHBD) deficiency. difficulties in the diagnosis.

Judit García-Villoria, Aleix Navarro-Sastre, Carme Fons, Celia Pérez-Cerda, Antonio Baldellou, Miguel Angel Fuentes-Castelló, Inmaculada González, Cristina Antonia Ribes.

Clinical Biochemistry (2009) 42(1-2) 27-33 | Resumen

The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.

G.Stevenson, S.C.Mitchel, B.Pérez, L.R. Desviat, M. Ugarte.

Molecular Genetics and Metabolism (2009) 96(1) 27-31 | Resumen

What we know that could influence future treatment of phenylketonuria.

C.N. Sarkissian, A. Gámez, C.R. Sccriver.

Journal of Inherited Metabolic Disease (2009) 32(1) 3-9 | Resumen

Ten Novel HMGCL Mutations in 24 Patients of Different origin with 3 Hydroxy-3Methyl-Glutaric Aciduria.

Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J.

Human Mutation (2009) 30(3) 520-529 | Resumen

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

Lourdes R. Desviat, Rocio Sánchez-Alcudia. Belén Pérez, Celia Pérez-Cerdá, Rosa Navarrete, Raymon viizelaar, Magdalena Ugarte.

Molecular genetics and Metabolism (2009) 96(4) 171-176 | Resumen

Creatine transporter deficiency in two adult patients with static encephalopathy.

A. Sempere, C. Fons, A. Arias, P. Rodríguez-Pombo, R. Colomer, B.Merinero, P. Alcaide, A. Capdevila, A Ribes, R Artuch, J. Campistol.

Journal of Inherited Metabolic Disease,(2009) on line | Resumen

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.

Quental S, Gusmao A, Rodríguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, Prata MJ.

Ann Hum Genet , (2009) 73:298-303 | Resumen

Patología molecular hereditaria (I).

V. Nunes, M. Ugarte, C. Lazaro, R. Rorra.

Medicina Interna, Ed Elservier.Vol I 1242-1252 ISBN:978-84-8086-350-6.

The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro.

Stojilikovic M, Pérez B, Desviat LR, Aguado C, Ugarte M, Pavlovic S.

Protein Journal 28(6):294-299 | Resumen

TEpilepsy spectrum in cerebral creatine transporter deficiency.

Carmen Fons, Ángela Arias, Pilar Poó, Mercedes Pineda, Antonia Ribes, Begoña Merinero, María A Vilaseca, Gajja S Salomons, Rafael Artuch , Jaume Campistol.

Epilepsia (2009) 50(9):2167-2173 | Resumen

Pseudoexon Exclusion by Antiense Therapy in Methylmalonic Aciduria (MMAuria).

B. Pérez, A. Rincón, A. Jorge-Finnigan, E. Richard, B. Merinero, LR Desviat, M. Ugarte.

Humman Mutation (2009) 30:1-7 | Resumen

The enigmatic role of tafazzin in cardiolipin metabolism.

H. Houtkooper, Marjolein Turkenburg, Bwee Tien Polls-The, Daniela Karall, Celia Pérez-Cerdá, Amelia Marrone, Sabrina malgavia, Ronald J. Wanders, Willem Hulik, Fréderic M. Vaz.

Biochimica et Biophysica Acta (2009) 1788:2003-2014 | Resumen

Genetic and Cellular Studies of Oxidative Stress in Methylmalonic Aciduria (MMA) Cobalamin Deficiency Type C (cblC) Whit Homocystinuria (MMACHC).

Eva Richard, Ana Jorge-Finnigan, Judit García-Villoria, Begoña Merinero, Lourdes R. Desviat, Laura Gort, Paz Briones, Fátima Leal, Celia Pérez-Cerdá, Antonia Ribes, Magdalena Ugarte, Belén Pérez and the MMACHC Working Group.

Humman Mutation (2009) 30(11):1558-1566 |  Resumen

Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.

Dahri S, Desviat LR, Pérez B, Leal F, Ugarte M, Chabraoui L.

Clinical Biochemistry (2009) | Resumen

Cerebral creatine deficiency: First Spanish patients harbouring mutations in gambt gene.

Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Álvarez E, Campistol J, Artuch R.

Med clin-Barcelona (2009).

Dos hermanos afectos de déficit de succínico semialdehido deshidrogenasa con distinta afectación clínica. Disminución de los níveles 4-OH-butírico con dosis bajas de vigabatrina.

G. Iglesias, I. Ferrer, LL. Carrasco, P. Ruíz Sala, C. Jakobs, C. Pérez-Cerdá.

Anales de Pediatría.

Bases moleculares de las enfermedades metabólicas hereditarias.

L. Ruíz Desviat, B. Pérez, M. Ugarte.

«Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias» Ed Pablo Sanjurjo y Antonio Baldellou (2009) Ediciones Ergon. Madrid, pp.13-23. ISBN 978-84-8473-793-3.

Análisis funcional y estructural de genes mutantes. Relación fenotipo-genotipo en enfermedades metabólicas hereditarias.

B. Pérez, L.R Desviat, M. Ugarte.

«Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias» Ed Pablo Sanjurjo y Antonio Baldellou (2009) Ediciones Ergon. Madrid, pp.13-23. ISBN 978-84-8473-793-3.

Alteraciones del metabolismo de la biotina.

B. Merinero, C. Pérez-Cerdá.

«Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias» Ed Pablo Sanjurjo y Antonio Baldellou (2009) Ediciones Ergon. Madrid, pp.13-23. ISBN 978-84-8473-793-3.

Hiperfenilalaninemias por deficit del cofactor BH4.

M. Martínez-Pardo Casanova, M.J. García Muñoz.

«Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias» Ed Pablo Sanjurjo y Antonio Baldellou (2009) Ediciones Ergon. Madrid, pp.13-23. ISBN 978-84-8473-793-3

Acidemia Isovalérica. Alteraciones dek catabolismo de leucina y valina.

B. Merinero, C. Pérez-Cerdá.

«Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias» Ed Pablo Sanjurjo y Antonio Baldellou (2009) Ediciones Ergon. Madrid, pp.13-23. ISBN 978-84-8473-793-3.

“Methylmalonic acidemia: examination of genotype and biochemical data in 32 patients belonging to MUT, CBLA or CBLB complementation group”.

B Merinero, B Pérez, C Pérez-Cerdá, A Rincón, LR Desviat, MA Martínez, P Ruiz Sala, MJ García, L Aldamiz-Echevarría, J Campos, V Cornejo, M del Toro, A Mahfoud, M Martínez-Pardo, R Parini, C Pedrón, L Peña-Quintana, M Pérez, M Pourfarzam, M Ugarte.

Journal of Inherited Metabolic Disease (2008) 31(1):55-66 | Resumen

«Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease».

C Pérez-Cerdá, D Quelhas, A.I Vega, M J Ecay, L Vilarinho and M Ugarte.

Clinical Chemistry (2008) 54(1):93-100 | Resumen

«Acute fatty of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency»

C.Junquera-Gutiérrez, E.Balmaseda, E.Gil, A.Martínez, M.Sorli, I.Cuartero, B.Merinero, M.Ugarte.

European Journal of Pediatrics (2008) Abr 12. | Resumen

«Structural and biochemical comparison between phenylalanine ammonia lyase from A».

Variabilis and R. Toruloides. L. Wang, A. Gámez, H. Archer, E. Abola, C. N. Sarkissian P. Fitzpatrick, D. Wendt, S. Bell, C.R. Scriver, R. C. Stevens.

Journal Molecular of Biology (2008) en prensa.

«The changing face of Phenylketonuria: 75 years in the making».

C.N. Sarkissian, A. Gámez, C.R. Scriver.

Journal of Inherited Metabolic Disease (2008) en prensa.

«Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.»

A Verdú,RJ Torres,B.Merinero and JG Puig.

Nucleosides,Nucleotides, and Nucleic Acids(2008)31(1):55-66 | Resumen

«Análisis de las frecuencias de todas las combinaciones genotípicas de cuatro polimorfismos de genes implicados en el ciclo del folato en la población española.»

M.L. Martínez-Frias, E. Bermejo, B Pérez, L.R. Desviat, M Castro,F. Leal E. Mansilla,M.L. Martínez-Fernández, E.Rodríguez-Pinilla. L Rodríguez, M Ugarte , y Grupo de trabajo del ECEMEC.

Medicina Clínica (2008) 131839:81-88 | Resumen

«Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.»

Bustamante-Aragones A, Pérez -Cerdá C, Pérez B, Rodriguez de Alba M, Ramos C.

Molecular Genetics and Metabolism(2008) 95:101-103 | Resumen

«Defecto congénito de glucosacion tipo lb. Experiencia en el tratamiento con manosa.»

E. Martín Hernández, A.I. Vega Pajares, B Pérez González, M.J. Ecay Crespo, Fleal Pérez, J. Manzanares López-Manzanares, M Ugarte Pérez, C Pérez -Cerdá Silvestre.

An Pediatr(Barc).(2008)69(4):358-65,

«Study of patients and carriers with 2-methyl-3hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency. Difficulties in the diagnosis.»

Judit García-Villoria, Aleix Navarro-Sastre, Carme Fons, Celia Pérez-Cerdá,Antonio Baldellou , Miguel Ángel Fuentes-Castelló, Inmaculada González, Arturo Hernández-González, Cristina Fernández, Jaume Campistol, Carina Delpiccolo, Nuria Cortés, ängel Messeguer, Paz Briones, Antonia Ribes.

Clinical Biochemistry (2008).

«Long-term evolution of eight Spanish patients with CDG type la: Typical and atypical manifestations.»

B. Pérez-Dueñas, A. García-Cazorla, M. Pineda, P. Poo, J. Campistol, V. Cusí, E. Schollen, G Matthijs, S. Grunewald, P. Briones, C. Pérez-Cerdá, R. Artuch, M.A. Vilaseca.

European Journal of Pediatric Neurology(2008) | Resumen

«The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.»

G. Steventon, S.C. Mitchell, B. Pérez, L.R. Desviat, M.Ugarte.

Molecular Genetics and Metabolism(2008) | Resumen

«Functional analysis of three splicing mutations identified in the PMM2 gene: towards a new therapy for Congenital Disorder of Glycosylation type Ia.»

Ana I. Vega, Celia Pérez-Cerdá, Lourdes R. Desviat, Gert Matthijs, M Ugarte and B. Pérez.

Human Mutation(2008).

“BH4 Responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor”.

C Aguado, B Pérez, MJ García, A Belanger-Quintana, M Martínez-Pardo, M Ugarte and LR Desviat.

Clinica Chimica Acta (2007) 380(1-2):8-12 |  Resumen

“Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced Mrna”.

C Aguado, B Pérez, MJ García, A Belanger-Quintana, M Martínez-Pardo, M Ugarte and LR Desviat.

American Journal of Human Genetics (2007) 81(6):1262-1270 | Resumen

“Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias”.

Isaac Ferrer, Pedro Ruiz-Sala, Yolanda Vicente, Begoña Merinero, Celia Pérez-Cerdá and Magdalena Ugarte.

Journal of Chromatography B-Analytical Technologies In The Biomedical And Life Sciences (2007) 860 (1):121-126 | Resumen

“Methylmalonic acidemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway”.

E.Richard, A. Alvarez Barrientos, B. Perez, L.R. Desviat and M. Ugarte.

The Journal of Pathology (2007) 213(4):453-461 | Resumen

“Functional Analysis Of Splicing Mutations Causing Organic Acidemias”.

Lourdes R. Desviat, Belén Pérez and Magdalena Ugarte.

Current Research on Organic Acidemias (2007) 6:17-19.

“3-Methylglutaconic Aciduria Type 4. Manifesting as Leigh Syndrome in 2 Siblings”.

Nuria Muñoz Jareño, Daniel Maratín Fernández-Mayoralas, Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Magdalena Ugarte Pérez and Jaime Campos-Castelló.

Journal of Child Neurology (2007) 22 (2) 218-221.

“The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: Evaluation of response and subsequent treatment”.

Journal of Inherited Metabolic Disease (2007) 30(5):812.

The Journal of Pathology (2007) 213(4):453-461 | Resumen

“Neuroimage Findings in 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency”.

María R. Cazorla, Alfonso Verdú, Celia Pérez-Cerdá and Antonia Ribes.

Pediatric Neurology (2007) 36(4):264-267 | Resumen

“Diagnóstico y tratamiento de la aciduria metilmalónica: a propósito de un caso”.

Antonieta Mahfoud, Carmen L Domínguez, Analy Pérez, Cristiano Rizzo, Begoña Merinero y Belén Pérez.

Investigación Clínica (2007) 48(1):99-105 | Resumen

“ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency”.

Rikke K.J.Olsen, Simon E. Olpin, Brages S.Andresen, Zofia H. Miedzybrodzka, Morteza Pourfarzam, Begoña Merinero, Frank E. Frerman, Michael W. Beresford, John C.S. Dean, Nanna Cornelius, Oluf Andersen, Anders Oldfors, Elisabeth Holme, Niels Gregersen, Douglas M. Turnbull and Andrew A.M. Morris.

IBrain: a journal of neurology (2007) 130:2045-2054 | Resumen

“Deficiencia de creatina cerebral”.

Campistol J, Fons C, Arias A, Artuch R, Rodríguez-Pombo P, Merinero B, Ribes A.

VII Congreso Nacional de Errores Congénitos del Metabolismo. Ed. Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), Madrid, 2007, pp. 11-21 (ISBN: 978-84-96724-35-8).

“Bases Moleculares de la respuesta a cofactores en las enfermedades metabólicas hereditarias”.

Pérez B, Pérez-Cerda C, Desviat LR, Merinero B, Rodríguez-Pombo P, García MJ, Martínez-Pardo M, Ugarte M.

V VII Congreso Nacional de Errores Congénitos del Metabolismo. Ed. Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), Madrid, 2007, pp. 29-41 (ISBN: 978-84-96724-35-8)

“Protocolo de diagnóstico y tratamiento de las acidemias propiónica, metilmalónica e isovalérica”.

Campistol J, Boveda MD, Couce ML, Lluch MD, Merinero B.

Protocolos de diagnóstico y tratamiento de los Errores Congénitos del Metabolismo. Eds. P Sanjurjo, ML Couce, G Pintos, A Ribes, B Merinero, Mead-Johson a Brisstol Mayers Squibb S.A. Company, Madrid, 2007, pp. 27-51 (ISBN: 978-84-690-6242-5).

“Protocolo de diagnóstico, tratamiento y seguimiento de las hiperfenilalaninemias”.

Martínez-Pardo M, Belangar-Quintana A, García Muñoz MJ, Desviat L, Pérez B, Ugarte M.

Protocolos de diagnóstico y tratamiento de los Errores Congénitos del Metabolismo. Eds. P Sanjurjo, ML Couce, G Pintos, A Ribes, B Merinero, Mead-Johson a Brisstol Mayers Squibb S.A. Company, Madrid, 2007, pp. 71-107 (ISBN: 978-84-690-6242-5).

“Protocolo de diagnóstico y tratamiento de Tirosinemia tipo I o hepato-renal”.

Pérez-Cerdá C, Del Toro M, Díaz M.C, Jara P.

Protocolos de diagnóstico y tratamiento de los Errores Congénitos del Metabolismo. Eds. P Sanjurjo, ML Couce, G Pintos, A Ribes, B Merinero, Mead-Johson a Brisstol Mayers Squibb S.A. Company, Madrid, 2007, pp. 179-196 (ISBN: 978-84-690-6242-5).

«Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of Phenylketonuria».

A. Gámez, L. Wang, C. N. Sarkissian, D. Wendt, P. Fitzpatrick, J. F. Lemontt, C. R. Scriver and R. C. Stevens.

Molecular Genetics and Metabolism (2007) 91(4):325-334 | Resumen

“Fenilcetonuria”

B. Pérez, L. R. Desviat ,M.J. García y M. Ugarte.

Enfermedades Metabólicas. Eds. F. Mayor Zaragoza y M. Cascales Angosto. Real Academia de Farmacia/Fundación Ramón Areces, Madrid, 2006, pp. 291-391. ISBN:84-934430-2-6.

“Patología del metabolismo oxidativo del propionato”

C. Pérez-Cerdá, P. Rodríguez-Pombo, B. Merinero, L. R. Desviat, B. Pérez y M. Ugarte.

Enfermedades Metabólicas. Eds. F. Mayor Zaragoza y M. Cascales Angosto. Real Academia de Farmacia/Fundación Ramón Areces, Madrid, 2006, pp. 269-290. ISBN:84-934430-2-6.

“High Prevalence of CBS p.T191M Mutation in Homocystinuric Patients from Colombia ”

Marta Bermúdez, Nina Frank, Jaime Bernal, Roser Urreizti, Ignacio Briceño, Begoña Merinero, Celia Pérez-Cerdá, Magdalena Ugarte, Daniel Grinberg, Susana Balcells and Jan P. Kraus.

Human Mutation (2006) 27(3):296. Mutation in Brief #887 | Resumen

«Tratamineto de la hiperfenilalaninemia por déficit de fenilalanina hidroxilasa con tetrahidrobiopterina. ¿Cuándo y cómo?”.

A. Baldellou Vázquez, MI Salazar García-Blanco, M.P. Ruiz-Echarri Zalaya, C. Campos Calleja, L. Ruiz Desviat y M. Ugarte Pérez.

Anales de Pediatría (Barcelona) (2006) 64(2):146-152 | Resumen

“Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells”.

C Aguado, B Pérez, M Ugarte and LR Desviat.

FEBS Letters (2006) 580:1697-1701 | Resumen

“Diagnóstico diferencial de las acidosis lácticas congénitas. Deficiencias de la piruvato carboxilasa”.

B. Merinero y C. Pérez-Cerdá.

Enfermedades Mitocondriales. Eds. Angel Nogales, Mª Teresa García Silva, Aula Médica, Madrid, 2006, pp. 96-107. (ISBN: 10:84-7885-412-6).

“Maternal Polymorphims 677C-T and 1298-C of MTHFR, and 66A-G MTRR Genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels and the risk for having a child with Down Syndrome? ”.

ML Martínez-Frías, B Pérez, LR Desviat, M Castro, F Leal, L Rodríguez, E Mansilla, ML Martínez-Fernández, E Bermejo, E Rodríguez Pinilla, D Prieto, M Ugarte and ECEMC Working Group.

American Journal of Medical Genetics Part A (2006) 140:987-997 | Resumen

“Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency”.

Kolker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Marti-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF.

Pediatric Research (2006) 59(6):840-847 | Resumen

“Adenylosuccinate lyase deficiency”.

M. Castro, C, Pérez-Cerdá, B. Merinero, and M. Ugarte.

Genetic Errors Associated with Purine and Pyrimidine Metabolism in Humans: Diagnosis and Treatment. Ed. Yuji Mirowaki. Research Signpost, Kerala, India , 2006, pp. 111-129. (ISBN: 81-7736-275-5).

“Mutational spectrum of maple syrup urine disease in Spain ”

Rodriguez-Pombo P, Navarrete R, Merinero B, Gomez-Puertas P, Ugarte M.

Human Mutation (2006) 27(7):715. | Resumen

“Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis”.

Eva Richard, Lucia Monteoliva, Silvia Juarez, Belén Pérez, Lourdes R. Desviat, Magdalena Ugarte, and Juan Pablo Albar.

Journal of Proteomic Research (2006) 5(7):1602-1610 | Resumen

“Identification of exonic deletions in the PAH gene causing Phenylketonuria by MLPA analysis”.

LR Desviat, B Pérez and M Ugarte.

Clinica Chimica Acta (2006) 371(1-2):164-167 | Resumen

“Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy”.

Merinero B, Perez-Cerda C, Ruiz Sala P, Ferrer I, Garcia MJ, Martinez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernandez E, Vianey-Saban C, Bischoff C, Gregersen N, Ugarte M.

Journal of Inherited Metabolic Disease (2006) 29(5):685 | Resumen

“Bases moleculares de las enfermedades metabólicas hereditarias”.

L. Ruiz Desviat, B. Pérez González, M. Ugarte Pérez.

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias. Eds. P. Sanjurjo y A. Baldellou, Ergon, Madrid, 2006, pp. 1-10. (ISBN: 84-8473-478-1).

“Análisis funcional y estructural de genes mutantes. Relación fenotipo-genotipo en enfermedades metabólicas hereditarias”.

B. Pérez González, L. Ruiz Desviat, M. Ugarte Pérez.

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias. Eds. P. Sanjurjo y A. Baldellou, Ergon, Madrid, 2006, pp. 11-19. (ISBN: 84-8473-478-1).

“Hiperfenilalaninemias por déficit del cofactor BH4”.

M. Martínez-Pardo Casanova, M.J. García Muñoz.

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias. Eds. P. Sanjurjo y A. Baldellou, Ergon, Madrid, 2006, pp. 319-327. (ISBN: 84-8473-478-1).

“Alteraciones del catabolismo de leucina y valina. Déficit múltiple de carboxilasas”.

C. Pérez-Cerdá Silvestre, B. Merinero Cortés.

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias. Eds. P. Sanjurjo y A. Baldellou, Ergon, Madrid, 2006, pp. 393-478 (ISBN: 84-8473-478-1).

“New splicing mutations in propionic acidemia”.

Lourdes R. Desviat, S. Clavero, C. Pérez-Cerda, R. Navarrete, M. Ugarte and B. Pérez.

Journal of Human Genetics (2006) 51(11):992-997 | Resumen

“Defectos congénitos de la glicosilación. Diagnóstico y tratamiento”.

C. Pérez-Cerdá, M. Ugarte.

Revista de Neurología (2006) 43(1):145-156 | Resumen

“The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism”.

M.E. Gallardo, L.R. Desviat, J.N. Rodríguez, J. Esparza-Gordillo, C. Pérez-Cerdá, B. Pérez, P. Rodríguez-Pombo, O. Criado, R. Sanz, D. Holmes Morton, M.K. Gibson, T.P. Le, A. Ribes, S. Rodríguez de Córdoba, M. Ugarte and M.A. Peñalva.

American Journal of Human Genetics (2001) 68(2):334-346 | Resumen

“A novel Single-Base Substitution (380C>T) That Activates a 5-Base Downstream Cryptic Splice-Acceptor Site within Exon 5 in Almost All Transcripts in the Human Mitochondrial Acetoacetyl-CoA Thiolase Gene”.

K. Nakamura, T. Fukao, C. Pérez-Cerdá, C. Luque, X-Q.Song, Y. Naiki, Y. Kohno, M. Ugarte and N. Kondo.

Molecular Genetics and Metabolism (2001) 72:115-121 | Resumen

“Adolescent myopatic presentation in two sisters with very long-chain acyl CoA dehydrogenase deficiency”.

B. Merinero, S.I. Pascual Pascual, C. Pérez-Cerdá, J. Gangoiti, M. Castro, M.J. García, I. Pascual Castroviejo, C. Vianey-Saban, B. Andresen, N. Gregersen and M. Ugarte.

Neurology (2001) 2:22-23.

“Molecular basis of phenylketonuria in Cuba ”.

L.R. Desviat, B. Pérez, E. Gutierrez, A. Sánchez, B. Barrios and M. Ugarte.

Human Mutation (2001) Sep 18: 252. | Resumen

“Hipodensidad bilateral de ganglios basales en neuroimagen. Correlato clínico evolutivo en al edad pediátrica”.

A. Martínez-Bermejo, J. Arcas, C. Roche, V. López-Martín, A. Royo, B. Merinero, M.J. García, A. Tendero, M. Ugarte.

Revista de Neurología (2001) 33 (2): 101-110 | Resumen

“Síndrome de West secundario a deficiencia de adenilosuccinato liasa”.

J. Torres, M. Castro, R. Jadraque, I. Llana, A. Usano, M. Ugarte.

Revista de Neurología (2001) 33 (3):250-291.

“Structure of the PCCA Gene and Distribution of Mutations in Propionic Acidemia”.

E. Campeau, L.R. Desviat, D. Leclerc, B. Pérez, M. Ugarte and R.A. Gravel.

Molecular Genetics and Metabolism (2001) 74: 238-247 |Resumen

“Bases Moleculares de la Enfermedades Metabólicas Hereditarias”

L. Ruiz Desviat, B. Pérez y M. Ugarte.

En Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias P. Sanjurjo, A. Baldellou (eds.), Ediciones Ergon, 2001, cap. 1, pp. 1-13.

“Effect of PCCB gene mutations on the Heteromeric and homomeric assembly of propionyl-CoA carboxylase”

S. Muro, B. Pérez, L.R. Desviat, P. Rodríguez-Pombo, C. Pérez-Cerdá, S. Clavero and M. Ugarte.

Molecular Genetics and Metabolism (2001) 74:476-483 | Resumen

“Acidemia isovalérica y otras alteraciones en el catabolismo de leucina y valina. Déficit múltiple de carboxilasas”

C. Pérez-Cerdá, B. Merinero.

En Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias P. Sanjurjo, A. Baldellou (eds.), Ediciones Ergon, 2001, cap. 25, pp. 263-274.

“Hiperfenilalaninemia por deficiencia del cofactor BH4”

M. Martínez-Pardo, M.J. García Muñoz.

En Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias P. Sanjurjo, A. aldellou (eds.), Ediciones Ergon, 2001, cap. 18, pp. 207-214.

“The clinical phenotype and aoutcome of mitochondrial acetoacetyl-CoA thiolase deficiency (b-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation and mutation-defined patients”

T. Fukao, C. Scriver, N. Kondo and the T2 Collaborative Working Group.

Molecular Genetics and Metabolism (2001) 72(2):109-114 | Resumen

“Outcome of tyrosinaemia type III”.

C.J. Ellaway, E. Holme, S. Standing, M.A. Preece, A. Green, E. Ploechl, M. Ugarte, F.K. Trefz and J. Leonard.

Journal of Inherited Metabolic Disease (2001) 24:824-832 | Resumen

“Neonatal non-ketotic hyperglycinemia”.

Aparicio Hernan A, Ortiz Movilla R, Muro Brussi M, Cabanillas Vilaplana L, Lorente Jareno ML, Ugarte M.

Anales Españoles de Pediatría (2002) 56(1):71-72 | Resumen

“Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acids substitutions on tertiary structure”.

T. Fukao, H. Nakamura, K. Nakamura, C. Pérez-Cerdá, A. Baldellou, C.R. Barrionuevo, F. Girona, Y. Kohno, M. Ugarte and N. Kondo.

Molecular Genetics and Metabolism (2002) 75:235-243 | Resumen

“Transfection screening for defects in the PCCA and PCCB genes encoding propionylCoA carboxilasa subunits”.

C. Pérez-Cerdá, L.R. Desviat, B. Pérez, M. Ugarte and P. Rodríguez-Pombo.

Molecular Genetics and Metabolism (2002) 75:276-279 | Resumen

“Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients”.

M. Castro, C. Pérez-Cerdá, B. Merinero, M.J. García, J. Bernar, A. Gil Nagel, J. Torres, M. Bermúdez, P. Garavito, S. Marie, F. Vincent, G. Van den Berghe and M. Ugarte.

Neuropediatrics (2002) 33:186-189 | Resumen

“Seventeen novel mutations that cause profound biotinidase deficiency”.

B. Wolf, K. Jensen, G. Hüner, M. Demirkol, T. Baykal, P. Divry, M.O. Rolland, C. Pérez-Cerdá, M. Ugarte, R. Straussberg, L. Basel-Vanagaite, E.R. Baumgartner, T. Suormala, S. Scholl, A.M. Das, S. Schweitzer, E. Pronicka, and J. Sykut-Cegielska.

Molecular Genetics and Metabolism (2002) 77:108-111 | Resumen

“Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients”.

Arranz JA, Pinol F, Kozak L, Perez-Cerda C, Cormand B, Ugarte M, Riudor E.

Human Mutation (2002) 20(3):180-188 | Resumen

“Functional characterization of PCCA mutations causing propionic acidemia”.

S. Clavero, M.A. Martínez, B. Pérez, C. Pérez-Cerdá, M. Ugarte and L.R. Desviat.

Biochimica et Biophysica Acta-Molecular Basis of Disease (2002) 1588(2):119-125 | Resumen

“Aciduria metilmalónica con homocistinuria de inicio neonatal: mejoría bioquímica y clínica con betaína”.

A. Urbón, J. Aldana, C. Reig, C. Nieto y B. Merinero.

Anales Españoles de Pediatría (2002) 56(4): 337-341 | Resumen

“Caracterización clínica, bioquímica y molecular de la deficiencia de piruvato carboxilasa”.

B. Merinero.

Anales Españoles de Pediatría (2002) 57(2): 9-11.

“Adenosine Deaminase deficiency with mosaicism for a “second-site suppressor” of a splicing mutation:decline in revertant T lymphocytes during enzyme replacement therapy”.

Arredondo-Vega, F.X., Santisteban, I., Richard, E., Pawan, B., Koleilat, M., Loubser, M., Al-Ghonaium, A., Al-Helali, M., y Hershfield, M.S.

Blood (2002) 99(3):1005-1013 | Resumen

“Clustered charged amino acids of human Adenosine Deaminase comprise a functional epitope for binding the Adenosine Deaminase complexing protein CD26/Dipeptidyl Peptidase IV”.

Richard, E., Alam, S.M., Arredondo-Vega, F.X., Patel, D.D., y Hershfield, M.S.

The Journal of Biological Chemistry (2002) 277(22):19720-19726 | Resumen

“Propionic acidemia: identification of twenty-four novel mutations in Europe andNorth America”.

B. Pérez, L.R. Desviat. P. Rodríguez-Pombo, S. Clavero, R. Navarrete, C. Pérez-Cerdá and M. Ugarte.

Molecular Genetics and Metabolism (2003) 78:59-67 | Resumen

“Analysis of defective subunit interactions using the two-hybrid system”.

Pérez B, Desviat LR, Ugarte M.

Methods in Molecular Biology (2003) 232:245-256 | Resumen

“Investigation of Folding and Degradation of in vitro Synthesized Mutant Proteins in the Citosol”.

L.R. Desviat, B. Pérez, and M. Ugarte.

Methods in Molecular Biology (2003) 232:257-263 | Resumen

“Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

Pey AL, Desviat LR, Gámez A, Ugarte M, Pérez B.

Human Mutation (2003) 21(4):370-378 | Resumen

“Genetic diversity within the R408W phenylketonuria mutation lineages in Europe”.

Tighe O, Dunican D, O’Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Pérez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT.

Human Mutation (2003) 21(4):387-393 | Resumen

“Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts”.

Pérez-Cerdá C, Clavero S, Pérez B, Rodríguez-Pombo P, Desviat LR, Ugarte M.

Biochimica et Biophysica Acta-Molecular Basis of Disease (2003) 1638(1):43-49> | Resumen

“Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria”.

L.R. Desviat, C. Pérez-Cerdá, B. Pérez, J. Esparza-Gordillo, P. Rodríguez-Pombo, M.A. Peñalva, S. Rodríguez de Córdoba and M. Ugarte.

Molecular Genetics and Metabolism (2003) 80:315-320 | Resumen

“Hyperammonaemia as a cause of psychosis in an adolescent”.

Belanger-Quintana A, Martínez-Pardo M, Garcia MJ, Wermunth B, Torres J, Pallares E, Ugarte M.

European Journal of Pediatrics (2003) 162:773-775 | Resumen

“Thermodynamic parameters for the binding of tetrahydrobiopterin to human phenylalanine hydroxylase”.

A.L.Pey, M. Thorolfsson, H. Erlandsen, R.C. Stevens, M. Ugarte, L.R. Desviat, B. Pérez and A. Martínez.

En Pterins, Folates and Related Biogenic Amines, N. Blau y B. Thony (eds). SPS Publications, 2003, pp. 155-160.

«Structural studies on phenylalanine hydroxylase and implications towards understanding and treating phenylketonuria»

Heidi Erlandsen, Marianne G. Patch, Alejandra Gámez, Mary Straub, Raymond C. Stevens.

Pediatrics (2003) 112(6):1557-1565 | Resumen

“Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency”

J.M. Rodríguez, P. Ruiz-Sala,M. Ugarte, M.A. Peñalva.

Journal of Biological Chemistry (2004) 279(6):457-487 | Resumen

“Propionic Acidemia: unusual course with late onset and fatal outcome”

T. Lücke, C. Pérez-Cerdá, M. Baumgartner, B. Fowler, S. Sander, M. Sasse,S. Scholl,M. Ugarte and A. Martín Da.

Metabolism-Clinical and Experimental (2004) 53(6):809-810 | Resumen

“Fungal metabolic model for type I 3-methylglutaconic aciduria”.

Rodriguez JM, Ruiz-Sala P, Ugarte M, Peñalva MA.

Journal of Biological Chemistry (2004) 279(31):32385-32392 | Resumen

“Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes”

Clavero S, Perez B, Rincon A, Ugarte M, Desviat LR.

Human Genetics (2004) 115(3):239-247 | Resumen

“Propionic acidemia: mutation update and functional and structural effects of the variant alleles”.

L.R. Desviat, B. Pérez, C. Pérez-Cerdá, P. Rodríguez-Pombo, S. Clavero, M. Ugarte.

Molecular Genetics and Metabolism (2004) 83:28-37 | Resumen

“Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype”

L.R. Desviat, B. Pérez, A. Belanger-Quintana,M. Castro, C. Aguado, A. Sánchez, M.J. García, M. Martínez-Pardo, M. Ugarte.

Molecular Genetics and Metabolism (2004) 83:157-162 | Resumen

“Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase”.

A.L. Pey, M. Thorolfsson, K. Teigen,M. Ugarte, A. Martínez.

Journal of the American Chemical Society (2004) 126(42):13670-1367 | Resumen

“Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations”.

A.L. Pey, B. Pérez, L.R. Desviat, M.A. Martínez, C. Aguado, H. Erlandsen, A. Gámez, R. C. Stevens, M. Thorolfsson,M. Ugarte, A, Martínez.

Human Mutation (2004) 24(5):388-399 | Resumen

“Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency”.

Christensen E, Ribes A, Merinero B, Zschocke.

Journal of Inherited Metabolic Disease (2004) 27(6): 861-868 | Resumen

“Correction of kinetic and stability defects by the cofactor BH4 in KU patients with certain phenylalanine hydroxylase mutations by the cofactor BH4.”

H. Erlandsen, A.L. Pey, A. Gámez, B. Pérez, L.R. Desviat, C. Aguado, R. Koch, R. Matalon, C.R. Scriver,M. Ugarte, A. Martínez, R.C. Stevens.

Proceedings of the National Academy of Sciences of the United States of America (2004) 101(48):16903-16908 | Resumen

“Prenatal diagnosis of propionic acidemia”.

C. Pérez-cerdá, B. Pérez, B. Merinero, L.R. Desviat, P. Rodríguez Pombo, M. Ugarte.

Prenatal Diagnosis (2004) 24(12):962-964 | Resumen

«A Mass Spectrometry Plate Reader: Monitoring Enzyme and Inhibitor Activity with Desorption/Ionization on Silicon (DIOS) Mass Spectrometry «

Shen Z., Go E.P., Gámez A., Apon J.V., Fokin V., Greig M., Ventura M., Crowell J.E., Blixt O., Paulson J.C., Stevens R., Finn M.G., Siuzdak G.

Chemistry Biology Chemistry (2004) 5(7):921-927 | Resumen

«Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase».

A. Gámez, L. Wang, M. Straub, M.G. Patch and R.C. Stevens.

Molecular Therapy (2004) 9(1): 124-129 | Resumen

«Trends in Enzyme Therapy for Phenylketonuria»

W. Kim, H. Erlandsen, S. Surendran, RC. Stevens, A. Gámez, K. Michols-Matalon, SK. Tyring and R. Matalon.

Molecular Therapy (2004) 10(2): 220-224 | Resumen

“L-2 hydroxyglutaric aciduria in a patient with Klinefelter syndrome”.

Pascual-Castroviejo I, Pascual-Pascual S, Velazquez R, Ferrer I, Ugarte M, Garcia-Segura J.

Neurología (2005) 20(2):90-93 | Resumen

“Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM Barrel model of HL”.

Beatriz Puisac, Eduardo López-Viñas, Susana Moreno, Cecilia Mir, Celia Pérez-Cerdá, Sebastian Menao, Dolores Lluch, Angeles Pie, Paulino Gómez-Puertas, Nuria Casals, Magdalena Ugarte, Fausto G. Hegardt, Juan Pie.

Biophysical Chemistry (2005) 115(2-3):241-245 | Resumen

“Genetic analysis of three genes causing isolated methylmalonic acidemia. Identification of twenty one novel allelic variants”.

MA Martínez, A Rincón, LR Desviat, B Merinero, M. Ugarte, B. Pérez.

Molecular Genetics and Metabolism (2005) 84(4):371-325 | Resumen

“Genetic analysis of three genes causing isolated methylmalonic acidemia. Identification of twenty one novel allelic variants”.

MA Martínez, A Rincón, LR Desviat, B Merinero, M. Ugarte, B. Pérez.

Molecular Genetics and Metabolism (2005) 84(4):371-325 | Resumen

“Estudio del polimorfismo C677T del gen MTHFR y las concentraciones plasmáticas de homocisteína”.

B González Martín-Moro, B Pérez, C Santiuste Puente, LR Desviat, M Ugarte, ML Pérez, A Pardo Vigo, M Matíes Prats.

Química Clínica (2005) 24(1): 41-45 | Resumen

“Aciduria glutárica tipo 1 con evolución normal: seguimiento de un caso hasta la edad adulta”.

I Pascual-Castroviejo, SI Pascual-Pascual, B Merinero, M Ugarte, JM García-Segura, J Viaño, R Velázquez.

Neurología (2005) 20(4):189-193 | Resumen

“Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase”.

P. Rodríguez Pombo, C. Pérez-Cerdá, B. Pérez, L.R. Desviat, M Ugarte.

Biochimica et Biophysica Acta-Molecular Basis of Disease (2005) 1740(3):489-498 | Resumen

“2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: An X-linked inborn error of isoleucine metabolism that mimic a mitochondrial disease”.

C. Pérez-Cerdá, J. García Villoria, R. Ofman, P. Ruiz Sala, B. Merinero, M. Rodés, J. Ramos, M.T. García Silva, B. Beseler, J. Dalmau, R.J.A. Wanders, M. Ugarte, A. Ribes.

Pediatric Research (2005) 58(3):488-491 | Resumen

“Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients”.

B Perez, LR Desviat, P Gomez-Puertas, A Martinez, R Stevens, M Ugarte.

Molecular Genetics and Metabolism (2005) 86(1):11-16 | Resumen

“Spanish BH4-responsive phenylalanine hydroxylase deficient patients: evolution of 7 patients on long-term treatment with tetrahydrobiopterin”

A. Bélanger-Quintana, M. J. García, M. Castro, L. R. Desviat, B. Pérez, B. Mejía, M. Ugarte, M. Martínez- Pardo.

Molecular Genetics and Metabolism (2005) 86(1):61-66 | Resumen

“Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria».

A Gámez, CN Sarkissian, L Wang, W Kim, M Straub, MG Patch, L Chen, S Striepeke, P Fitzpatrick, JF Lemontt, C O’Neill, CR Scriver and RC Stevens.

Molecular Therapy (2005) 11(6):986-989 | Resumen

«Structure-based chemical modification enzyme substitution strategy for treatment of phenylketonuria»

L Wang, A Gámez, CN Sarkissian, M Straub, MG Patch, GW Han, S Striepeke, P Fitzpatrick, JF Lemontt, CA O’Neill, CR Scriver and RC Stevens.

Molecular Genetics and Metabolism (2005) 86(1-2):134-140 | Resumen

«Phenylalanine ammonia lyase, enzyme substitution therapy for Phenylketonuria, where are we now?».

CN Sarkissian and A Gámez.

Molecular Genetics and Metabolism (2005) 86(1):22-26 | Resumen

“Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity”.

L.R. Desviat, B. Pérez and M. Ugarte.

Journal of Inherited Metabolic Disease (1996) 19:227-230 | Resumen

“Mitochondrial very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency with a mild clinical course”.

B. Merinero, C. Pérez-Cerdá, M.J. García, J. Gangoiti, L.M. Font, M.T. García Silva, C. Vianey-Seban, M. Durán and M. Ugarte.

Journal of Inherited Metabolic Disease (1996) 19:173-176 | Resumen

“Mutation analysis of phenylketonuria in South Brazil”.

B.Pérez, L.R. Desviat, M. De Lucca, B. Schmidt, N. Loghin-Grosso, R. Giuglani, R. F. Pires and M. Ugarte.

Human Mutation (1996) 8:262-264 |  Resumen

“Succinyl CoA: 3-Oxoacid CoA Transferase (SCOT): Human cDNA Cloning Human Chromosomal Mapping to 5p13, and Mutation Detection in a SCOT Deficient Patient”.

Sacha Kassovska-Bratinova, Toshiyuki Fukao, Xian-Qian Song, Alesandra M.V. Duncan, Hai Shiene Chen, Marie France Robert, C. Pérez Cerdá, M. Ugarte, Pierre Chartrand, Suzanne Vobecky, Naomi Kondo and Grant A. Mitchell.

American Journal of Human Genetics (1996) 59:519-528 | Resumen

“Necrosis bilateral de ganglios basales en la acidemia metilmalónica”.

M.Vázquez López, A. Martínez Bermejo, A. Martínez Jiménez, M.J. García Muñoz, A. Royo Orejas, J. Arcas Martínez, V. López Martín y I. Pascual Castroviejo.

Anales Españoles de Pediatría (1996) 44:273-276.

“Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetylCoA thiolsase deficiency”. (1996) 44:620-622.

D. Yeste-Fernández, F. Castelló Girona, J.M. Grampeura, E. Ruidor Taravilla, J. Arranz Amo, A. Ribes Rubio, C. Pérez-Cerdá.

Anales Españoles de Pediatría (1996) 44 620-622.

“Phenylketonuria in Spanish gypsies: Prevalence of the IVS10nt546 mutation on non-haplotype 34”.

L. R. Desviat, B. Pérez and M. Ugarte.

Human Mutation (1997) 9:66-68 | Resumen

“Analysis of the Phenylalanine Hydroxylase Gene in the Spanish Population: Mutation Profile and Association with Intragenic Polymorphic Markers”

B. Pérez, L. R. Desviat and M. Ugarte.

American Journal of Human Genetics (1997) 60:95-102 | Resumen

“Succinyl-CoA:3 ketoacid coenzyme A (SCOT): development of an antibody to human SCOT and diagnosis use in hereditary SCOT deficiency”.

Xiang-Qian Song, Tohiyuki Fukao, Grant A. Mitchell, Sacha Kassovska-Bratinova, M. Ugarte, Ronald J.A. Wanders, Ken Hirayama, Haruo Shintaku, Perry Churchill, Hiroh Watanabe, Tadao Orii, and Naomi Kondo.

Biochimica et Biophysica Acta-Molecular Basis of Disease (1997) 1360:151-156. | Resumen

“Two cases of biotinidase deficiency within a 9 day period after 8 years of neonatal screening involving the analysis of 175.000 newborn children”.

D.E. Castiñeiras, M.L. Couce, J.R. Alonso Fernández, M. Castro, C. Pérez-Cerdá and M. Ugarte.

Proceedings III International Society for Neonatal Screening. Editors H. L. Levy, R. J. Hermos, G. F. Grady, 1997, pp. 190-191.

“The STR 252-IVS10nt546-VNTR7 phenylalanine hydroxylase minhaplotype in five Mediterranean samples”.

F. Cali, A. Piazza, I.Dianzani, L.R. Desviat, B. Pérez, M. Ugarte, M. Ozguc, Y. Shiloh, S. Giannattasio, C. Carducci and V. Romano.

Human Genetic (1997) 100:350-355 | Resumen

“Relationship between mutation genotype and biochemical phenotype in a heterogeneus Spanish PKU population”.

L. R. Desviat, B. Pérez, M.J. García, M. Martinez Pardo, A. Baldellou, J. Arena, P. Sanjurjo, J. Campistol, M.L. Couce, A. Fernández, J. Cardesa and M. Ugarte.

European Journal of Human Genetics (1997) 5:196-202 | Resumen

“Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients”.

Eva Richard, Lourdes R. Desviat, Belén Pérez, Celia Pérez-Cerdá and M. Ugarte.

Human Genetics (1997) 101: 93-96. | Resumen

“Forma intermitente de la hiperamoniemia tipo II. Dificultad en el diagnóstico”.

A. Martínez-Bermejo, J. Arcas, C. Roche, V. López-Martín, R. Lama, M.J. García, B. Merinero, V. Rubio e I. Pascual-Castroviejo.

Revista de Neurología (1997) 25(145):1438-1470.

“Protocolo de diagnóstico y tratamiento de la acidemia propiónica-metilmalónica-isovalérica”

J. Campistol, M.C. Bóveda, M.L. Couce, M.D. Lluch, B. Merinero.

Anales Españoles de Pediatría. (1997) 89S:9-15.

“Biotinidase deficiency: result of treatment with biotin from age 12 years”.

E. Casado de Frias, J. Campos Castelló, J. Careaga Maldonado, C. Pérez-Cerdá.

European Journal of Paediatric Neurology (1997) 1(5-6):173-176 | Resumen

«A new frequent mutation in the PCCB gene in Spanish propionic acidemia patients».

J. Hoenicka, P. Rodríguez-Pombo, C. Pérez Cerdá, S. Muro, E. Richard and M. Ugarte.

Human Mutation (1998) Supp.1:S234-236. | Resumen

«Perspectivas en el diagnóstico Molecular de los errores congénitos del metabolismo por análisis del DNA».

M. Ugarte, L.R. Desviat and B. Pérez.

Actualidad Nutricional (1998) 24:43-46.

«Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria».

B. Merinero, C. Pérez-Cerdá, M.J. García, B. Chadefaux-Vekemans, P. Kamoun, C. Tonetti, J. Zittoun and M. Ugarte.

Prenatal Diagnosis (1998) 18:947-952 | Resumen

«An unusual late onset case of propionic acidemia: Biochemical investigations, neuroradiological findings and mutation analysis».

C. Pérez-Cerdá, B. Merinero, M. Martí, J.C. Cabrera, L. Peña, M.J. García, J. Gangoiti, P. Sanz, P.Rodríguez-Pombo, J. Hoenicka, E. Richard, S. Muro and M. Ugarte.

European Journal of Pediatrics (1998) 157:50-52 | Resumen

“Molecular basis of phenylketonuria in Venezuela: Presence of two novel “null” mutations.”

M. DeLucca, B. Pérez, L.R. Desviat and M. Ugarte.

Human Mutation (1998) 11(5):345-353 | Resumen

“Experiencia en el diagnóstico prenatal de 45 casos de aminoacidopatías y acidemias orgánicas”.

B. Merinero, C. Pérez-Cerdá, M.J. García, B. Pérez, L.R. Desviat, and M. Ugarte.

Progresos en Diagnóstico Prenatal (1998) 10(8):464-468.

“A nonsense mutation in the exon2 of the 3hydroxy-3-methylglutaryl coenzyme a lyase (HL) gene producing three nature mRNAs is the main cause of 3-hydroxy-3-metylglutaric aciduria in european mediterranean patients”

Cesar H. Casale, Nuria, Casals, Juan Pie, Nuria Zapater, Celia Pérez-Cerda, Begoña Merinero, Mercedes Martínez-Pardo, Juan José García-Peñas, José M. García-Gonzalez, Rosa Lama, Beww Tien Poll-The, Jan A.M. Smeitink, Ronald J.A. Wanders, Magdalena Ugarte and Fausto G. Hedgardt.

Archives of Biochemistry and Biophysics (1998) 349(1):129-137 | Resumen

“Human Propionyl-CoA Carboxylase ß Subunit Gene: Exon-Intron Definition and Mutational Spectrum in Spanish and Latin American Propionic Acidemia Patients”.

P. Rodríguez-Pombo, J. Hoenicka, S. Muro, B. Pérez, C. Pérez-Cerdá, E. Richard, L.R. Desviat and M. Ugarte.

American Journal of Human Genetics (1998) 63:360-369 | Resumen

“Genetic heterogeneity in propionic acidemia patients with a-subunit defects. Identification of five novel mutations, one of them causing instability of the protein”.

E. Richard, L.R. Desviat, B. Pérez, C. Pérez-Cerdá and M. Ugarte.

Biochimica et Biophysica Acta-Molecular Basis of Disease (1999) 1453:351-358 | Resumen

“Feasibility of DNA-based methods for prenatal diagnosis and carrier detection of propionic acidemia”.

Muro, S., Perez-Cerdá, C., Rodríguez-Pombo, P., Pérez, B., Briones, P., Ribes, A., Ugarte, M.

Journal of Medical Genetics (1999) 36(5):412-414 | Resumen

“Molecular characterization of phenylalanine hydroxylase deficiency in Chile”.

B. Pérez, L.R. Desviat, M. De Lucca, V. Cornejo, E. Raimann and M. Ugarte.

Human Mutation (1999) | Resumen

“Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain. Molecular survey by regions”

L.R. Desviat, B. Pérez, A. Gámez, A. Sánchez, M.J. García, M. Martínez-Pardo, C. Marchante, D. Bóveda, A. Baldellou, J. Arena, P. Sanjurjo, A. Fernández, M.L. Cabello and M. Ugarte.

European Journal of Human Genetics (1999) 7:386-392 | Resumen

“Identifacation of novel mutations in the PCCB gene in European Propionic Acidemia Patients”.

S. Muro, P. Rodríguez-Pombo, B. Pérez, C. Pérez-Cerdá, L.R. Desviat, W. Sperl, D. Skladal, J. O. Sass and M. Ugarte.

Human Mutation (1999) 14(1):89-90 | Resumen

“An overview of mutations in the PCCA and PCCB genes causing propionic acidemia”.

M. Ugarte, C. Pérez-Cerdá, P. Rodriguez-Pombo, L.R. Desviat, B. Pérez, E. Richard, S. Muro, E. Campeau, T. Ohura, R.A. Gravel.

Human Mutation (1999) 14:275-282 | Resumen

“Enfermedades metabólicas e hígado”

M.Martínez-Pardo, L. Suares, M.C. Díaz y M.J. García.

Anales Españoles de Pediatría (1999).Supl. 126.

Adolescent myopatic presentation in two sisters with very long-chain acyl CoA dehydrogenase deficiency”.

B. Merinero, S.I. Pascual Pascual, C. Pérez-Cerdá, J. Gangoiti, M. Castro, M.J. García, I. Pascual Castroviejo, C. Vianey-Saban, B. Andresen, N. Gregersen and M. Ugarte.

Journal of Inherited Metabolic Disease (1999) 22:208-210 | Resumen

“Fenilcetonuria: 30 años de investigación y prevención”.

B. Pérez, LR. Desviat M. Martínez-Pardo, MJ. Garcia y M. Ugarte.

Premio Real Academia de Farmacia 1998. Anales de la Real Academia de Farmacia (1999) 65: 271-304.

“Enfermedades metabólicas e hígado”

M. Martínez-Pardo, L. Suarez, M.C. Díaz y M.J. García.

Anales Españoles de Pediatría (1999) 126: 15-23.

“Potencial Relationship between genotype and clinical outcome in propionic acidemia patients”.

Celia Pérez- Cerdá, B. Merinero, Pilar Rodríguez-Pombo, Belén Pérez, Lourdes R. Desviat, Silvia Muro, Eva Richard, MJ García, Jon Gangoiti, Pedro Ruiz-Sala, Paloma Sanz, Paz Briones, A Ribes, M. Martínez-Pardo, J Campistol, M. Pérez, R. Lama, ML Murga, T Lema-Garret, A. Verdú and Magdalena Ugarte.

European Journal of Human Genetics (2000) 8:187-194 | Resumen

“Mutations affecting the β-β homomeric interaction in propionic acidaemia: An approach to the determination of the β-propionil CoA carboxylase fuctional domains”.

S. Muro, B. Pérez, P. Rodríguez-Pombo, L.R. Desviat, C. Pérez Cerdá and M. Ugarte.

Journal of Inherited Metabolic Disease (2000) 23:300-304 | Resumen

“In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene”.

C. Zekanowski. B. Pérez, L.R. Desviat, W. Wiszniewski and M. Ugarte.

JActa Biochimica Polonica (2000) 47(2):365-369 | Resumen

“Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein”.

A. Gámez, B. Pérez, M. Ugarte and L.R. Desviat.

Journal of Biological Chemistry (2000) 275:29737-29742 | Resumen

“Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence for two groups of patients, genetically and biochemically distinct”.

C. Busquets, B. Merinero, E. Christensen, J. Gelpí, J. Campistol, M. Pineda, E. Fernández-Alvarez, J. Prats, A. Sans, R. Arteaga, M. Martí, J. Campos, M. Martínez-Pardo, A. Martínez-Bermejo, ML. Ruiz-Falcó, J. Vaquerizo, M. Orozco, M. Ugarte, M.J. Coll, A. Ribes.

Pediatric Research (2000) 48 (3):315-322 | Resumen

“Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

Ulla Rüetschi, Roberto Cerone, Celia Pérez-Cerdá, Maria Cristina Schiaffino, Sue Staanding, Magdalena Ugarte, Elisabeth Holme.

Human Genetics (2000) 106:654-662 | Resumen

“Molecular and Enzymatic Methods for Detection of Genetic Defects in the Distal Pathways of Brached- Chain Amino Acid Metabolism”.

M. Gibson M. Ugarte, T. Fukao and G. Mitchell.

Methods in Enzymology (2000) 342: 432-450 | Resumen

“Enfermedades Hereditarias”

Concepción Lázaro, Virginia Nunes, Belén Peral, Magdalena Ugarte.

Tratado de Medicina Interna Farreras-Rozman,2000, 14ª ed , vol I cap. 169, pp 1396-1410.

“Prenatal molecular diagnosis of glutaric acidduria type I by direct mutation analysis”.

CC. Busquets, MJ. Coll, B. Merinero, M. Ugarte, M.A. Ruiz, A. Martínez-Bermejo, A. Ribes.

Prenatal Diagnosis (2000) 20 (9):761-764 | Resumen

“Diagnóstico diferencial de homocistinuria”

B. Merinero.

En Patología molecular de la homocisteína. III Symposium de SHS de errores congénitos del metabolismo, 2000, pp.25-36.

“Prenatal molecular diagnosis of glutaric acidduria type I by direct mutation analysis”.

CC. Busquets, MJ. Coll, B. Merinero, M. Ugarte, M.A. Ruiz, A. Martínez-Bermejo, A. Ribes.

Prenatal Diagnosis (2000) 20 (9):761-764 | Resumen

“Protocolo para el diagnóstico y tratamiento de Tirosinemia tipo I hepatorrenal”.

F. Castelló, M.C. Díaz, P. Jara, C. Pérez-Cerdá.

Anales Españoles de Pediatría (2000) 53(2):10-15.

«The binding site of human Adenosine Deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to CD26 but does not cause immune deficiency».

Richard, E., Arredondo-Vega, F.X., Santisteban, I., Kelly, S.J., Patel, D.D., y Hershfield, M.S.

Journal of Experimental Medicine (2000) 192 (9):1223-1235 | Resumen

«Detección neonatal y prevención de metabolopatías».

M. Ugarte.

Infancia y Sociedad (1991) 11: 33-46.

“Fenotipos y genotipos en Fenilcetonuria”.

M. Ugarte.

En Tecnología PCR. Aplicaciones de las técnicas de amplificación del DNA ,1991.

«Biotin transport in primary culture of astrocytes: Effect of biotin deficiency»

P. Rodríguez-Pombo and M. Ugarte.

Journal of Neurochemistry (1992) 58: 1460-1463 | Resumen

«Primary cultures of astrocytes from rat as a model for biotin deficiency».

P. Rodríguez-Pombo. L. Sweetman and M. Ugarte.

Molecular and Chemical Neuropathology (1992) 16: 33-44 | Resumen

«Investigation of enzyme defects in children with lactic acidosis».

B. Merinero, C. Pérez-Cerdá y M. Ugarte.

Journal of Inherited Metabolic Disease (1992) 15: 696-706 | Resumen

«A new case of Succinyl CoA: Acetoacetate deficiency».

C. Pérez-Cerdá, B. Merinero, P. Sanz, A. Jiménez, C. Hernández, M.J. García y M. Ugarte.

Journal of Inherited Metabolic Disease (1992) 15: 371-373 | Resumen

«Mutation analysis of phenylketonuria in Spain , prevalence of two Mediterranean mutations»

B. Pérez, L.R. Desviat, M. Die y M. Ugarte.

Human Genetics (1992) 89: 341-342 | Resumen

«A new PKU mutation associated with haplotype 12».

Lourdes R. Desviat, Belén Pérez and Magdalena Ugarte.

Human Molecular Genetics (1992) 1(9): 765-766 | Resumen

«Prevención de los errores congénitos del metabolismo».

M. Ugarte.

En Curso de Prevención de Deficiencias. Documentos 33/92 (1992) 192-213.

«Errores congénitos del metabolismo».

M. Ugarte.

Acta Pediátrica Española (1993) 50: 501-505.

«First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk”.

C. Pérez-Cerdá, B. Merinero, A. Jiménez, M.J. García, L. LJlst, R. J. A. Wanders and M. Ugarte.

Prenatal Diagnosis (1993) 13: 529-533. | Resumen

«Phenylketonuria in Spain : RLFP Haplotypes and Linked mutations».

Lourdes R. Desviat, Belén Pérez and Magdalena Ugarte.

Human Genetics (1993) 92: 254-258 | Resumen

«Presence of the prevalent Mediterranean mutation IVS10 in Latin America»

B. Pérez, L.R. Desviat, M. Die, V. Cornejo, N.A. Chamoles, H. Nicolini and M. Ugarte.

Human Molecular Genetics (1993) 2(8): 1289-1298 | Resumen

«Errores congénitos del metabolismo».

M. Ugarte.

Acta Pediátrica Española (1993) 50: 501-505.

«Phenotype distribution in the Spanish population and related genotypes»

M. Martínez-Pardo, A.R. Colmenares, M.J. García, B. Pérez, L.R. Desviat, and M. Ugarte.

Journal of Inherited Metabolic Disease (1994) 17: 366-368 | Resumen

«Different phenotypical manifestation associated with identical PKU genotypes in two Spanish families»

B. Pérez, L.R. Desviat,M.J.García and M. Ugarte.

Journal of Inherited Metabolic Disease (1994) 17: 377-378 | Resumen

«Identification of the Insertion/Deletion Mutation in Spanish ß-Propionyl-CoA Carboxylase-deficient Patients»

C. Pérez Cerda, P. Rodriguez Pombo and M. Ugarte.

Journal of Inherited Metabolic Disease (1994) 17: 661-663 | Resumen

«Frecuencia de la mutación IVS10, 165T y V388M en 93 niños PKU chilenos, correlación fenotipo/genotipo».

V. Cornejo, B.Pérez, L.R. Desviat, M. Colombo, E. Raiman, M. Ugarte.

Rev. Chilena Pediat (1994) 65: 31-32.

«Determinación de la frecuencia y distribución de los haplotipos del gen de la fenilalanina hidroxilasa en México y búsqueda de la mutación IVS10.»

H. Nicolini, B. Camarena, C. Cruz, G. Bilbao, A. Velázquez, B. Pérez, L. Desviat and M. Ugarte.

Anales del Instituto de Psiquiatría (1994) 177-182.

«Spectrum and origin of phenylketonuria mutations in Spain «

B. Pérez, L.R. Desviat, M. De Lucca and M. Ugarte.

Acta Pediatrica (1994) Suppl. 407: 34-36 | Resumen

“Deficiencia de los complejos I y IV de la cadena respiratoria mitocondrial en dos hermanos con aciduria glutárica tipo I”

A. Martínez Bermejo, I. Pascual Castroviejo, B. Merinero, Y. Campos, V. López Martín, J. Arcas, M. Gutiérrez Molina, J. Arenas.

Neurología (1994) 7: 303-306 | Resumen

«Expression analysis of mutation p244L which causes mild hyperfenylalaninemia».

B. Pérez, L.R. Desviat and M. Ugarte.

Human Mutation (1995) 5: 107-112 | Resumen

«Liver transplantation in nine Spanish patients with tyrosinemia type I».

C. Pérez-Cerdá, B. Merinero, P. Sanz, M. Castro, J. Gangoiti, M.J. García, M. Diaz, E. Medina and M. Ugarte.

Journal of Inherited Metabolic Disease (1995) 18: 119-122 | Resumen

«Variable clinical and biochemical presentation of seven Spanish cases with Glutaryl-CoA Dehydrogenase Deficiency»

B. Merinero, C.Pérez-Cerdá, L.M. Font, M.J. Garcia, M. Aparicio, G. Lorenzo, M. Martínez Pardo, C. Garzo, A. Martínez Bermejo, I. Pascual Castroviejo, E. Christensen and M. Ugarte.

Neuropediatrics (1995) 26: 238-242 | Resumen

«Evidence in Latin America of recurrence of V388M, a Phenylketonuria Mutation with High In Vitro Residual Activity». (1995) 57:337-342.

L. R. Desviat, B. Pérez, M. De Lucca, V. Cornejo, B. Schmidt and M. Ugarte.

American Journal of Human Genetics (1995) 57: 337-342 | Resumen

«Molecular Analysis of the Phenylalanine Hidroxylase Gene in Mexican Phenylketonuric Patients».

H. Nicoloni, C. Cruz, B. Camarena, M.F. Merino, G. Bilbao, M. Vela, A. Veláquez, B. Pérez, L. Desviat and M. Ugarte.

Archives of Medical Research (1995) 26(1): 53-57 | Resumen

«Miopatía lipídica por aciduria glutárica tipo II sensible a riboflavina».

J.M. Ramos Fernández, M. Martínez Pardo, M. García Villanueva, G. Lorenzo Sanz, B. Merinero, A. Jiménez, M. Ugarte, E. Pallarés, J. Arenas, Y. Campos y J.M. Aparicio Meix.

Anales Españoles de Pediatría (1995) 42: 207-210.

«A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency”.

M.A.García-Pérez, P. Sanjurjo, P. Briones, M.J. García Muñoz and V. Rubio.

Human Genetics (1995) 96: 549-551 | Resumen

«Hiperfenilalaninemias por Deficiencia en la Síntesis o en el Reciclaje del Cofactor de las Hidroxilasas: La Tetrahidrobiopterina (BH4)».

M. Martínez-Pardo, M.J.García Muñoz and M.A. Mena.

Anales Españoles de Pediatría. Junio (1995) Supl. 69.

“Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency”.

E. Riudor, A. Ribes, C. Pérez-Cerdá, J.A. Arranz, J. Mora, D. Yeste, F. Castelló, B. Christenssen, O. Sovik.

Journal of Inherited Metabolic Disease (1995) 18: 748-749 | Resumen

«Tratamiento de los errores congénitos del metabolismo de aminoácidos».

M. Ugarte.

En Sustrato Protéico. Jarpyo Ed. 1986.

«Results of neonatal and selective screening for biotinidase deficiency».

C. Pérez-Cerdá, P. Martínez, B. Merinero, P. Rodríguez Pombo, F. Román, M.J. García, M. Martínez-Pardo & M. Ugarte.

J. Inher. Metab. Dis (1987) 10(2):296-298.

«ß-Ketothiolase deficiency: two siblings with different clinical conditions».

B. Merinero, C. Pérez-Cerdá, M.J. García, S. Carrasco, R. Lama , M. Ugarte & B. Middleton.

J. Inher. Metab. Dis. (1987) 10(2):276-278.

«Diagnóstico diferencial de hiperfenilalaninemias».

M.J. García. J. Belloque , P. Sanz , A. Jiménez y M. Ugarte.

Química Clínica (1987) 6(2):74.

«Diagnóstico y seguimiento de las hiperfenilalaninemias”.

M.J. García. J. Belloque , P. Sanz , A. Jiménez, M. Martínez-Pardo y M. Ugarte.

Química Clínica (1988) 7(4): 230.

«Acidosis láctica congénita debida a deficiencia aislada de piruvato carboxilasa».

B. Merinero Cortés, J.A. del Valle Martínez, C. Pérez-Cerdá Silvestre, M.J. García Muñoz, M.T. Cortés Coto, J. García Aparicio, E. Saez Pérez y M. Ugarte Pérez.

An. Esp. Pediatr (1988) 29: 57-60. | Resumen

«Análisis molecular de la fenilcetonuria en España: polimorfismo y haplotipos».

G. Morales, M.C. López, M.J. García, C. Alonso y M. Ugarte.

Rev. Soc. Esp. Quim. Clin (1988) 7: 230.

«Análisis molecular de la fenilcetonuria en España: polimorfismo y haplotipos».

G. Morales, M.C. López, M.J. García, C. Alonso y M. Ugarte.

Rev. Soc. Esp. Quim. Clin (1988) 7: 230.

«Patología Enzimática”.

M. Ugarte y F. Valdivieso.

En Recientes Progresos en la Etiología del Cáncer y Patología Molecular. Fundación Ramón Areces (1989).

«Fenilcetonuria. Análisis molecular y de haplotipos del gen de la Fenilalanina Hidroxilasa en familias fenilcetonúricas».

G. Morales, J.M. Requena, A. Jiménez, M.J. García, M.C. López, M. Ugarte y C. Alonso.

Fenilalaninemias. Mead Johnson Eds. Salvat, 1989, pp. 51-107.

«Successful first trimester diagnosis in a pregnancy at risk for propionic acidemia».

C. Pérez-Cerdá, B. Merinero, P. Sanz , A. Jiménez, M.J. García, A. Urbón, J. Díaz Recasens, C. Ramos , C. Ayuso y M. Ugarte.

Journal of Inherited Metabolic Disease (1989) 12(2):274-276 | Resumen

«Non-ketotic hyperglicinemia: Glycine/serine ratio in amniotic fluid. An unreliable method for prenatal diagnosis».

M.J. García, J. Belloque , B. Merinero, C. Pérez-Cerdá, P. Sanz y M. Ugarte.

Prenatal Diagnosis (1989) 9:473-476 | Resumen

«Diagnóstico neonatal de errores congénitos del metabolismo».

M.J. García, B. Merinero, C. Pérez-Cerdá y M. Ugarte.

En Aspectos moleculares en las patologías metabólico-genéticas. Ed. Jose A. Lozano Teruel. Fundación Ramón Areces, 1990, pp. 367-376. (ISBN: 84-87191-37-1).

«Sequence and expression of phenylalanine hidroxylase mRNA».

G. Morales, J.M. Requena, A. Jiménez-Diez, M.C. López, M. Ugarte y C. Alonso.

Gene (1990) 93:213-219 | Resumen

«Mutations in medium chain acyl-CoA dehydrogenase deficiency»

I.Yokota, K. Tanaka, P.M. Coates and M. Ugarte.

Lancet (1990) 336:8717-8748.

«Some aspects of glycine neurochemistry».

F. Mayor, F. Valdivieso, M. Ugarte, J. Benavides, M.L. García, J. López-Lahoya. y F.Mayor Jr.

En Amino Acid Neurotransmitters. Eds. FV DeFeudis, P. Mandel, Raven Press, 1981, pp.551-560 (ISBN: 0-89004-595-X) | Resumen

«Inhibition by methylmalonate of glycine uptake by synaptosomes from rat spinal cord».

J. López-Lahoya, M.L. García, J. Benavides y M. Ugarte.

J. Neurochem. (1981) 36(1):325-327. | Resumen

«Late onset type of propionic acidemia: Case report and biochemical studies».

B. Merinero, J.A. del Valle, A. Jiménez, M.J. García, M. Ugarte y R. Solaguren.

Jouranl of Inherited Metabolic Disease (1981) 4:71-72. | Resumen

«Postnatal development of synaptic glycine receptors in normal and hyperglycinemic rats».

J. Benavides, J. López-Lahoya, F. Valdivieso y M. Ugarte. Solaguren.

J. Neurochem. (1981)37(2):315-320. | Resumen

«Molecular pathology of brain disfunction in inherited metabolic diseases. II.B.- Hyperglycinemia».

M. Ugarte, J. Benavides, M.L. García, J. López-Lahoya, F. Mayor jr., y F. Valdivieso.

Pontificiae Academiae Scientiarum Scripta Varia (1981) 47:15-18.

«Early postnatal diagnosis of inborn errors of metabolism».

M. Ugarte, M.J. García, B. Merinero y J.A. del Valle.

Pontificiae Academiae Scientiarum Scripta Varia (1981) 47:18-19.

“Neonatal Screening Programme for Aminoacids Disorders and Congenital Hypothyroidism in Spain ”.

M. Ugarte. Grupo Español para el Estudio de los Errores Congénitos del Metabolismo.

En Neonatal Screening. Excerpta Medica, 1982.

“Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency”

J.A. del Valle, B. Merinero, A. Jiménez, M.J. García y M. Ugarte.

Jouranl of Inherited Metabolic Disease (1982) 5:121-124. | Resumen

“Biochemical findings in a patient with neonatal methylmalonic acidemia”.

J.A. del Valle, B. Merinero, M.J. García, R. Gracia, A. Peralta y M. Ugarte.

J. Inher. Metab. Dis. (1982) 5:53-54.

“Inhibition by valproic acid of pyruvate uptake by brain mitochondria”.

J. Benavides, A. Martín, M. Ugarte y F. Valdivieso.

JBiochem. Pharmacol. (1982) 31(2):1633-1636. | Resumen

“Tratamiento combinado de exanguino-transfusión y diálisis peritoneal en un caso neonatal de acidemia metilmalónica con hiperamonemia severa”.

P. Sanjurjo, C. Jaquotot, A. Vallo, R. Uriarte, J.M. Prats, M. Ugarte y J. Rodríguez Soriano.

Anales Españoles de Pediatría (1982) 17(4):317-320 | Resumen

“Banco de fibroblastos humanos para el estudio de aminoacidopatías y acidemias orgánicas”.

J.A. del Valle, B. Merinero, C. Pérez-Cerdá y M. Ugarte.

Revista Española de Fisiología (1982) 38:207-210. |Resumen

“Patología Molecular de las Hiperglicinemias”.

J. Benavides y M. Ugarte.

Revista Española de Fisiología (1982) 38:199-206 | Resumen

“Inhibición por dipropilacetato y análogos estructurales del sistema glicina sintasa en mitocondrias de hígado y de cerebro”.

A. Martín, J. Benavides y M. Ugarte.

Revista Española de Fisiología (1982) 38:59-62 | Resumen

“Hiperamonemia neonatal por deficiencia en la actividad ornitina transcarbamilasa”.

J.A. del Valle, A. Urbón, M.J. García, P. Cuadrado y M. Ugarte.

Anales Españoles de Pediatría (1982) 16:416-420. | Resumen

«Estudio de tres pacientes con la enfermedad de «Jarabe de Arce»».

B. Merinero, J.A. del Valle, M.J. García, M. Miguel, M.J. Barrio, J. Hortelano, J. Aparicio, E. Saez, M. Martínez-Pardo y M. Ugarte.

Anales Españoles de Pediatría (1983) 19:393-400. | Resumen

«Acidemia propiónica de presentación neonatal. Evolución en los dos primeros años»

M. Martínez-Pardo, F. Barrio, C. Ludeña, R. del Olmo, I. Onsurbe, M.S. Martín Romero, C. Pérez-Cerdá, J.A. del Valle, B. Merinero, F. Román, M.J. García y M. Ugarte.

Nutrición Hospitalaria (1983) 3:29-37.

«Detección, Prevención e Investigación de la Etiología Molecular del Retraso Mental de Metabolopatías Congénitas».

M. Ugarte.

Premio Reina Sofía 1982. Centro de Diagnóstico de Enfermedades Moleculares.

«A new patient with dicarboxylic aciduria suggestive of medium-chain acylCoA dehidrogenase deficiency presenting as Reye`s-like syndrome»

J.A. del Valle, B. Merinero, C. Pérez-Cerdá, F. Román, A. Jiménez, M. Ugarte, M. Martínez Pardo, C. Ludeña, C. Camarero, R. del Olmo, M. Duran y S.K. Wadman.

Jouranl of Inherited Metabolic Disease (1984) 7:62-64. | Resumen

«Programa español de detección precoz de errores congénitos del metabolismo».

M. Ugarte.

Boletín de Estudios y Documentación de Servicios Sociales (1984) 14:17-26.

«Atypical nonketotic hyperglycinemia with a defective glycine transport system in nervous tissue».

F. Mayor Jr., A. Martín, P. Rodríguez, M.J. García, J. Benavides y M. Ugarte.

Neurochem. Pathology (1984) 2:233-249. | Resumen

«Patología molecular de los errores congénitos del metabolismo».

M. Ugarte.

En La Lucha contra la Enfermedad. Lilly España, 1984, pp. 293-315.

«Prevención de la Subnormalidad (Metabolopatías)».

M. Ugarte.

Libro Expociencia. Ministerio de Educación y Ciencia, 1985.

«Diagnóstico diferencial de Acidosis Láctica Congénita (ACL).

B. Merinero, M.J. García, J.A. Del Valle y M. Ugarte.

En Biología Perinatal. Sociedad Española de Bioquímica, 1985.

«Maple syrup disease variant form: Presentation with psychomotor retardation and CT scan abnormalities».

A. Verdú, J. López-Herce, I. Castroviejo, A. Martínez-Bermejo, M. Ugarte & M.J. García.

Acta Paediat. Scand. (1985) 74:815-818.

«Effects of dipropylacetate on the glycine cleavage enzyme system and glycine levels: A possible experimental approach to non-ketotic hyperglycinemia».

A. Martín, P. Rodríguez, M. López, J. Benavides & M. Ugarte.

Biochemical Pharmacology (1985) 34(16):2877-2882. | Resumen

«Free amino acids in the tissues of rats with experimentally induced phenylketonuria».

F. Valdivieso, M. Ugarte, M. Matíes, C. Giménez y F. Mayor.

J. Ment. Def. Res. (1977) 21:95. | Resumen

«Profilaxis de las enfermedades hereditarias del metabolismo y cromosomopatías».

M. López, R. Escorihuela, F. Pérez, C. Ramos, A Rapado, M. Ruiz y M. Ugarte.

B.M.S. Ped. (1977) 23:167.

«Panorámicas de los programas de selección masiva de metabolopatías»

M. Matíes y M. Ugarte.

En Prevención de la Subnormalidad. Eds. J. Esteban, J. Sabater, F. Balaña., Salvat, 1979, pp.459-469. (ISBN: 84-345-1715-9).

«Possible Explanation for Hyperglycinaemia in Propionic Acidaemia and Methylmalonic Acidaemia: Propionate and Methylmalonate inhibit liver and brain mitochondrial glycine transport».

M. Ugarte, J. López-Lahoya, M.L. García, J. Benavides, y F. Valdivieso.

J. Ment. Def. Res. (1977) 21:95. | Resumen

«Glycine metabolism and glycine activity during the postnatal development of rat brain».

J. López-Lahoya, J. Benavides y M. Ugarte.

Dev. Neurosci. (1980) 3:75-80. | Resumen

«Glycine transport in rat brain and liver mitochondria».

J. Benavides, M.L. García, J. López-Lahoya, M. Ugarte y F. Valdivieso.

Biochim. Biophys. Acta (1980) 598:588-594. | Resumen

«Leucocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia».

J.A. del Valle, B. Merinero, M.J. García, M. Ugarte, F. Omeñaca y G. Neustadt.

J. Inher. Metab. Dis. (1980) 3(3):93. | Resumen

«The offspring of a phenylketonuric couple».

M. Ugarte, M. Matíes y J.L. Ugarte.

J. Ment. Def. Res. (1980) 24:119-127. | Resumen

«Memoria de la labor realizada durante el año 1969 por el Centro de Investigación de Alteraciones Moleculares y Cromosómicas (C.I.A.M.Y.C.) de Granada»

R. Ibáñez, T.S. Mariscal y M. Ugarte.

Rev. Esp. Sub. y Epi. (1970) 1(1):107-143.

«Labor realizada por el Centro de Investigación de Alteraciones Moleculares y Cromosómicas durante el año 1970».

M. Ugarte, M. Matíes, F. Valdivieso y F. Mayor.

Rev. Hig. Pub. (1971) 45:987-1008.

«Early diagnosis of hypermucopolysacchariduria».

F. Valdivieso, A. Martínez Valverde, M. Matíes y M. Ugarte.

Clin. Chim. Acta (1973) 44:357. | Resumen

«Increased free phenylalanine in the milk of a phenylketonuric mother».

F. Valdivieso, M. Matíes, M. Ugarte, y F. Mayor.

Biochem. Med. (1973) 7(2):340. | Resumen

«Detección y tratamiento de algunas enzimopatías».

M. Matíes, M. Ugarte y F. Mayor.

En Biología Perinatal. Instituto de España, 1974.

«Diagnóstico precoz y tratamiento de un caso de fenilcetonuria».

M. Ugarte, M. Matíes, A. Martínez Valverde, F. Valdivieso y F. Mayor.

Revista Española de Pediatría (1975) 175:529.