Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Gabriela Magali Papazoglu, Marisa Cubilla, Marcela Pereyra, Raquel Dodelson de Kremer , Belén Pérez , Luisa Sturiale, Carla Gabriela Asteggiano.
Glycoconj J. (2021) 38(2):191-200.
Severe anemia in patients with Propionic acidemia is associated with branched‑chain amino acid imbalance.
Sinziana Stanescu, Amaya Belanger‑Quintana, Borja Manuel Fernandez‑Felix, Francisco Arrieta,Victor Quintero, Maria Soledad Maldonado, Patricia Alcaide,Mercedes Martínez‑Pardo.
Orphanet J Rare Dis.(2021) 16(1):226
Differential expression, co-expression and functional analysis of RNA-seq data using The Hunter suite/DEgenes Hunter and its applicability to rare disease.
Fernando M. Jabato, Jose Cordoba-Caballero, Elena Rojano, Carlos Rom_a-Mateo, Pascual Sanz, Belen Perez, Diana Gallego, Pedro Seoane,Juan A.G. Ranea, and James R. Perkins.
Sci Rep. (2021)
CPEB alteration and aberrant transcriptome-polyadenylation unveil a treatable SLC19A3 deficiency in Huntington’s disease.
Sara Picó, Alberto Parras, María Santos-Galindo, Julia Pose-Utrilla, Margarita Castro, Enrique Fraga, Ivó H. Hernández, Ainara Elorza, Héctor Anta, Nan Wang, Laura Martí-Sánchez, Eulàlia Belloc, Paula García-Esparcia, Juan J. Garrido, Isidro Ferrer, Daniel Macías-García, Pablo Mir, Rafael Artuch, Belén Pérez, Félix Hernández, Pilar Navarro, José Luis López-Sendón, Teresa Iglesias, X. William Yang, Raúl Méndez and José J. Lucas.
Sci Transl Med. (2021) 13(613):eabe7104.
Evaluating, filtering and clustering genetic disease cohorts based on Human Phenotype Ontology data with Cohort Analyzer.
Elena Rojano, Jose Cordoba-Caballero, Fernando M. Jabato, Mercedes Serrano, Diana Gallego, Belén Pérez, Álvaro Parés-Aguilar, James R, Perkins, Juan A.G. Ranea, Pedro Seoane-Zonjic..
J Pers Med. (2021) 11(8):730.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Eva Médico Salsench, Reza Maroofian, Ruizhi Deng, Kristina Lanko, Anita Nikoncuk, Belén Pérez, Obdulia Sánchez-Lijarcio, Salvador Ibáñez-Mico, Antonina Wojcik, Marcelo Vargas, Nouriya Abbas Al-Sannaa, Marian Y Girgis, Tainá Regina Damaceno Silveira, Peter Bauer, Audrey Schroeder, Chin-To Fong, Amber Begtrup, Meisam Babaei, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Mohammad Doosti, Najmeh Ahangari, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani, David Murphy, Elisa Cali, Ibrahim H Kaya, Mohammad AlMuhaizea, Dilek Colak, Kelly J Cardona-Londoño, Stefan T Arold, Henry Houlden, Aida Bertoli-Avella, Namik Kaya, Tahsin Stefan Barakat.
Brain. (2021) 144(10):e85.
Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.
Pedro Ruiz-Sala, Luis Peña-Quintana.
J Clin Med. (2021) 10(21):4855.
Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.
Alonso-Barroso E, Pérez B, Desviat LR, Richard E.
Int J Mol Sci. (2021) 22(3):1161.
Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite.
Jabato FM, Córdoba-Caballero J, Rojano E, Romá-Mateo C, Sanz P, Pérez B, Gallego D, Seoane P, Ranea JAG, Perkins JR.
Sci Rep. (2021) 11(1):15062.
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A, Del Caño-Ochoa F, Vilas A, Velázquez-Campoy A, Rubio V, Pérez B, Ramón-Maiques S.
J Inherit Metab Dis. (2021)
Proteostasis regulators as potential rescuers of PMM2 activity.
Vilas A, Yuste-Checa P, Gallego D, Desviat LR, Ugarte M, Pérez-Cerda C, Gámez A, Pérez B.
Biochim Biophys Acta Mol Basis Dis (2020)1866(7):165777.
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
Fulgencio-Covián A, Alonso-Barroso E, Guenzel AJ, Rivera-Barahona A, Ugarte M, Pérez B, Barry MA, Pérez-Cerdá C, Richard E, Desviat LR.
Transl Res(2020)218:43-56.
Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic academia.
M Tamayo, A Fulgencio-Covián, J A Navarro-García, A Val-Blasco, G Ruiz-Hurtado, M Gil-Fernández,L Martín-Nunes,J A Lopez,L R Desviat,C Delgado,E Richard,M Fernández-Velasco.
Biochim Biophys Acta Mol Basis Dis (2020)1866(1)165586.
Pathogenic variants of DNAJC12 and evaluation of the encoded co-chaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B.
Hum Mutat (2020) 41(7):1329-1338.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton,Carla Carducci, Ana E. Chiesa, John Christodoulou, Maja orCevi c, Lourdes R. Desviat,Aviva Eliyahu, Roeland A.F. Evers, Lena Fajkusova, Franc¸ois Feillet, Pedro E. Bonfim-Freitas,Maria Gi_zewska, Polina Gundorova, Daniela Karall, Katya Kneller, Sergey I. Kutsev,Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter-Konecki, Ania C. Muntau, Fares Namour,Mariusz Oltarzewski, Andrea Paras, Belen Perez, Emil Polak, Alexander V. Polyakov,Francesco Porta, Marianne Rohrbach, Sabine Scholl-Bürgi, Norma Spécola, Maja Stojiljkovi c,Nan Shen, Luiz C. Santana-da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Tho¨ny, Friedrich K. Trefz,Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F.Garbade and Nenad Blau.
Am J Hum Genet. (2020) 107(2):234-250.
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
Sinziana Stanescu , Amaya Belanger-Quintana, Carlos Alcalde Martin,Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Belen Gonzalez Pérez,Carmen Fernández García-Abril, Francisco Arrieta Blanco,Esperanza Palacios Valverde, and Mercedes Martínez-Pardo Casanova.
Case Rep Pediatr. (2020) 1370293.
New and potential strategies for the treatment of PMM2-CDG.
Alejandra Gámez, Mercedes Serrano, Diana Gallego, Alicia Vilasa, Belén Pérez.
Biochim Biophys Acta Gen Subj. (2020) 1864(11):129686.
Metabolic Serendipities of Expanded Newborn Screening.
Raquel Yahyaoui, Javier Blasco-Alonso, Montserrat Gonzalo-Marín, Carmen Benito, Juliana Serrano-Nieto, Inmaculada González-Gallego, Pedro Ruiz-Sala , Belén Pérez, Domingo González-Lamuño.
Genes (Basel) (2020) 11(9);1018.
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Marta Correa-Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé-Grau, Jorge Hernández-Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández-Rodríguez, Cristina Tello, Laura Ramírez-Jiménez, Belén Pérez, Ángel Sánchez-Montáñez, Alfons Macaya, María J Sobrido, Marta Martinez-Vicente, Belén Pérez-Dueñas, Carmen Espinós.
Ann Clin Transl Neurol (2020) 7(8):1436-1442.
PMM2‐CDG caused by uniparental disomy: Case report and literature review.
Laurien Vaes, George E. Tiller, Belén Pérez, Suzanne W. Boyer, Susan A. Berry, Kyriakie Sarafoglou, Eva Morava.
JIMD Rep(2020) 54;16-19.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spainlinical and molecular diagnosis of non-pmm2 n-linked congenital disorders of glycosylation in spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez R, García Silva MT, G-Solana LG, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, MártinezBugallo F, Martín Viota L, Vitoria I, Lefeber D, Girós ML, Serrano M, Ugarte M, Perez B, Perez-Cerdá C.
Clin Genet(2019) 95(5):615-626.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Navarrete R, Leal F, Vega AI, Morais-López A, Garcia-Silva MT, Martín-Hernández E, Quijada-Fraile P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García-Campos O, Bueno-Delgado M, Delgado-Pecellín C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat LR, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B.
Eur J Hum Genet.(2019) 27(4):556-562.
A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.
Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B.
J Inherit Metab Dis.(2019) 42(3):407-413.
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; and the CDG Spanish Consortium.
Ann Neurol.(2019) 85(5):740-751.
HIF1α Suppresses Tumor Cell Proliferation through Inhibition of Aspartate Biosynthesis.
Melendez-Rodriguez F., Urrutia A.A., Lorendeau D., Rinaldi G., Roche O., Bogurcu-Seidel N., Ortega Muelas M., Mesa-Ciller C., Turiel G., Bouthelier A., Hernansanz-Agustin P., Elorza A., Escasany E., Li Q.O.Y., Torres-Capelli M., Tello D., Fuertes E., Fraga E., Martinez-Ruiz A., Perez B., Gimenez-Bachs J.M., Salinas-Sanchez A.S., Acker T., Sanchez Prieto R., Fendt S.-M., De Bock K., Aragones.
Cell Rep.(2019) 26(9):2257:2265.
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
Jiménez Legido M, Cortés Ledesma C, Bernardino Cuesta B, López Marín L, Cantarín Extremera V, Pérez-Cerdá C, Pérez González B, López Martín E, González Gutiérrez-Solana L.
Neurología(Engl Ed) (2019) S0213-4853(19):30016-30017.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium.
J Med Genet.(2019) 56(4): 236-245.
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) (2019) S0213-4853(17):30213-30215.
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
Laura Arribas-Carreira, Irene Bravo-Alonso, Arístides López-Márqueza,Esmeralda Alonso-Barroso, Álvaro Briso-Montiano, Ignacio Arroyo,Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdáb, Pilar Rodríguez-Pombo,Eva Richard.
Stem Cell Res. (2019) 39:101503.
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.
Arístides López-Márqueza, Esmeralda Alonso-Barroso, Gema Cerro-Tello,Irene Bravo-Alonso, Laura Arribas-Carreira, Álvaro Briso-Montiano,Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez,Lourdes R. Desviata, Eva Richard.
Stem Cell Res. (2019) 38:101469.
Genes and variants underlying human congenital lactic acidosis: from genetics to personalized treatment.
Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruíz-Sala, Mª Teresa García Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Amaya Belanger-Quintana, Sinziana Stanescu, María Bueno, Isidro Vitoria, Laura Toledo, Mª Luz Couce, Inmaculada García-Jiménez, Ricardo Ramos-Ruiz, Miguel Ángel Martín, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez and Pilar Rodríguez-Pombo.
J Clin Med (2019) 8(11):1811.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Ina Knerr, Roberto Colombo, Jill Urquhart, Ana Morais6 ,Begona Merinero, Alfonso Oyarzabal, Belén Pérez, Simon A. Jones, Rahat Perveen, Mary A. Preece, Yvonne Rogers, Eileen P. Treacy, Philip Mayne, Giuseppe Zampino, Sabrina MacKinnon, Evangeline Wassmer, Wyatt W. Yue, Ian Robinson, Pilar Rodríguez-Pombo, Simon E. Olpin, Siddharth Banka.
J Inherit Metab Dis. (2019) 42(5) 809-817.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C.
Clin Genet. (2019) 95(5) 615-626.
Corrigendum to «Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene».
López-Márquez A, Alonso-Barroso E, Cerro-Tello G, Bravo-Alonso I, Arribas-Carreira L, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E.
Stem Cell Res. (2019) 39:101513.
COST Actions: fostering collaborative research for rare diseases.
Desviat LR, Mallebrera CJ, Vallejo-Illarramendi A, Mayán MD, Nogales-Gadea G, Arechavala-Gomeza V.
Lancet Neurol. (2019) 18(11):989-991.
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 deficiencias congénitas del metabolismo de vitaminas. Tiamina, riboflavina, pridoxina, biotina, cobalamina, folato.
MC García Jiménez, C Delgado Pecellín, D González-Lamuño. JD Ortigoza Escobar, B Pérez Dueñas, C Pérez-Cerdá.
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo Capítulo 15 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 1: Hiperfenilalaninemias.
Veronica Cornejo E, Erna Raimann B, Belén Pérez G, Lourdes R Desviat, Carolina Arias P.
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.
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
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
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