CCDC115 deficiency causes a disorder of Golgi homeostasis with abnormal protein glycosylation JC Jansen, S Cirak, M Van Scherpenzeel, S Timal, J Reunert, S Rust, ... The American Journal of Human Genetics 98 (2), 310-321, 2016 | 109 | 2016 |
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene B Pérez, C Medrano, MJ Ecay, P Ruiz-Sala, M Martínez-Pardo, M Ugarte, ... Journal of inherited metabolic disease 36, 535-542, 2013 | 61 | 2013 |
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant L Arrabal, L Teresa, R Sánchez-Alcudia, M Castro, C Medrano, ... Neurogenetics 12, 183-191, 2011 | 53 | 2011 |
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing AI Vega, C Medrano, R Navarrete, LR Desviat, B Merinero, ... Genetics in medicine 18 (10), 1037-1043, 2016 | 41 | 2016 |
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain C Medrano, A Vega, R Navarrete, MJ Ecay, R Calvo, SI Pascual, ... Clinical Genetics 95 (5), 615-626, 2019 | 38 | 2019 |
A population-based study on congenital disorders of protein N-and combined with O-glycosylation experience in clinical and genetic diagnosis C Pérez-Cerdá, ML Girós, M Serrano, MJ Ecay, L Gort, BP Dueñas, ... The Journal of pediatrics 183, 170-177. e1, 2017 | 32 | 2017 |
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress P Yuste-Checa, AI Vega, C Martín-Higueras, C Medrano, A Gámez, ... PLoS One 12 (6), e0179456, 2017 | 26 | 2017 |
Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG P Yuste‐Checa, C Medrano, A Gámez, LR Desviat, G Matthijs, M Ugarte, ... Clinical Genetics 87 (1), 42-48, 2015 | 13 | 2015 |
Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación C Pérez-Cerdá, ML Girós, M Serrano, BP Dueñas, MJ Ecay, C Medrano, ... de diagnóstico y tratamiento de los ErrorEs Congénitos del MEtabolisMo, 271, 2015 | 1 | 2015 |
Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación CPC Silvestre, MG Blasco, M Serrano, BP Dueñas, MJ Ecay, C Medrano, ... Protocolos de diagnóstico y tratamiento de los errores congénitos del …, 2018 | | 2018 |
Congenital Disorders of Glycosilation: Antisense therapy in TMEM165 deficiency P Yuste-Checa, C Medrano, LR Desviat, M Ugarte, C Pérez-Cerda, ... European Journal of Human Genetics 21, 262-262, 2013 | | 2013 |
A NOVEL NON-NEUROLOGICAL CONGENITAL DISORDER OF GLYCOSYLATION CAUSED BY MUTATIONS IN THE PHOSPHOGLUCOMUTASE 1 GENE B Perez, C Medrano, MJ Ecay, P Ruiz Sala, M Martinez-Pardo, M Ugarte, ... JOURNAL OF INHERITED METABOLIC DISEASE 35, S111-S111, 2012 | | 2012 |
GENETIC ANALYSIS OF CONGENITAL DISORDERS OF GLYCOSYLATION (CDG) PATIENTS USING CANDIDATE GENE GENOMIC CAPTURE AND NEXT GENERATION SEQUENCING C Medrano, C Perez-Cerda, P Gomez-Puerta, LR Desviat, M Ugarte, ... JOURNAL OF INHERITED METABOLIC DISEASE 35, S113-S113, 2012 | | 2012 |
EXPANDING OUR KNOWLEDGE OF CONGENITAL DISORDER OF GLYCOSYLATION-DPAGT1 TYPE B Perez, A Vega, C Medrano, C Martin-Higueras, S Pascual, I Arroyo, ... JOURNAL OF INHERITED METABOLIC DISEASE 35, S113-S113, 2012 | | 2012 |
FUNCTIONAL ANALYSIS OF TWO POINT MUTATIONS IN THE SPR GENE IDENTIFIED IN SPANISH PATIENTS WITH DOPA-RESPONSIVE DYSTONIA L Teresa, B Perez, M Castro, C Medrano, B Merinero, M Ugarte, ... JOURNAL OF INHERITED METABOLIC DISEASE 33, S162-S162, 2010 | | 2010 |
Diagnóstico molecular por secuenciación masiva de glucogenosis y enfermedades con síntomas clínicos solapantes AI Vega, C Medrano, R Navarrete, P Rodríguez-Pombo, I Vitoria, ... En este número, 0 | | |