Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid región.s.
Álvaro Martín-Rivada,Laura Palomino Pérez,Pedro Ruiz-Sala,Rosa Navarrete,Ana Cambra Conejero,Pilar Quijada Fraile,Ana Moráis López,Amaya Belanger-Quintana,Elena Martín-Hernández,Marcello Bellusci,Elvira Cañedo Villaroya,Silvia Chumillas Calzada,María Teresa García Silva,Ana Bergua Martínez,Sinziana Stanescu,Mercedes Martínez-Pardo Casanova,Miguel L.F. Ruano,Magdalena Ugarte,Belén Pérez,Consuelo Pedrón-Giner.
JIMD Reports (2022) 63(2)146-161
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Sinziana Stanescu , Amaya Belanger-Quintana , Borja Manuel Fernandez-Felix , Pedro Ruiz-Sala , Mercedes Del Valle , Fernando Garcia , Francisco Arrieta, Mercedes Martinez-Pardo.
Amino acids (2022) 54(5);777-786
Technical Aspects of Coenzyme Q 10 Analysis: Validation of a New HPLC-ED Method.
Abraham J Paredes-Fuentes, Clara Oliva, Raquel Montero, Patricia Alcaide, George J G Ruijter, Judit García-Villoria, Pedro Ruiz-Sala, Rafael Artuch.
Antioxidants (Basel) (2022) 11(3)528
A functional platform for the selection of pathogenic variants of pmm2 amenable to rescue via the use of pharmacological chaperones.
Cristina Segovia-Falquina, Alicia Vilas, Fátima Leal, Francisco del Caño-Ochoa, Edwin P. Kirk, Magdalena Ugarte, Santiago Ramón-Maiques, Alejandra Gámez, Belén Pérez.
Human Mutation 43(10):1430-1442.
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.
Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta, Pilar Rodríguez-Pombo.
Orphanet J Rare Dis(2022) 17(1)243.
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The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Obdulia Sánchez-Lijarcio, Delia Yubero, Fátima Leal, María L Couce, Luis González Gutiérrez-Solana, Eduardo López-Laso, Àngels García-Cazorla, Leticia Pías-Peleteiro, Begoña de Azua Brea, Salvador Ibáñez-Micó, Gonzalo Mateo-Martínez, Monica Troncoso-Schifferli, Scarlet Witting-Enriquez, Magdalena Ugarte, Rafael Artuch, Belén Pérez.
Clin Genet (2022) 102(1) 40-55.
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.
Briso-Montiano, A Vilas, E Richard, P Ruiz-Sala, E Morato, L R Desviat, M Ugarte, P Rodríguez-Pombo, B Pérez.
Biochim Biophys Acta Mol Basis Dis (2022) 1868(9):166433
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 (2022) 45(2): 318-333.
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Patricia Alcaide, Isaac Ferrer-López, Leticia Gutiérrez, Fátima Leal, Elena Martín-Hernández, Pilar Quijada-Fraile, Marcello Bellusci, Ana Moráis, Consuelo Pedrón-Giner, Dolores Rausell, Patricia Correcher, María Unceta, Sinziana Stanescu, Magdalena Ugarte, Pedro Ruiz-Sala, Belén Pérez.
J clin Med (2022) 11(10):2933.
Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.
Arístides López-Márquez, Ainhoa Martínez-Pizarro, Belén Pérez, Eva Richard, Lourdes R Desviat.
Methods in molecular biology (Clifton, N.J.)(2022) 2434:167-184
Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.
Martínez-Pizarro A, Leal F, Holm LL, Doktor TK, Petersen USS, Bueno M, Thöny B, Pérez B, Andresen BS, Desviat LR.
Nucleic Acid Ther. (2022) 32(5):378-390.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK.
Hum Mol Genet.(2022)
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, Natalia Castejón-Fernández, Rosa Navarrete, Patricia Alcaide, María L. Couce, Elena Martín-Hernández,Pilar Quijada-Fraile, Luis Peña-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodríguez-Pombo and Belén Pérez.
Int J Mol Sci(2022) 23(21):12850.
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Álvaro Martín-Rivada, Ana Cambra Conejero, Elena Martín-Hernández, Ana Moráis López, Amaya Bélanger-Quintana, Elvira Cañedo Villarroya, Pilar Quijada-Fraile, Marcelo Bellusci, Silvia Chumillas Calzada, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez-Pardo Casanova, Pedro Ruíz-Sala, Magdalena Ugarte, Belén Pérez González, Consuelo Pedrón-Giner.
J Pediatr Endocrinol Metab(2022) 325(10)1223-1231
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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.