ORIGINALES BREVES
Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa
Congenital disorder of glycosylation type 1b. experience with mannose treatment
E. Martín Hernándeza, A.I. Vega Pajaresb, B. Pérez Gonzálezb, M.J. Ecay Crespob, F. Leal Pérezb, J. Manzanares López-Manzanaresc, M. Ugarte Pérezb, C. Pérez-Cerdá Silvestreb,
a Servicio de Enfermedades Mitocondriales-Enfermedades Metabólicas Hereditarias. Departamento de Pediatría. Hospital Universitario 12 de Octubre. Madrid. España
b Centro de Diagnóstico de Enfermedades Moleculares. CBM-SO. Facultad de Ciencias. Universidad Autónoma de Madrid. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). Madrid. España
c Servicio de Gastroenterología Pediátrica. Departamento de Pediatría. Hospital Universitario 12 de Octubre. Madrid. España
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Información del artículo
ISSN: 16954033Idioma original: Español
DOI:10.1157/13126562
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