title: Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.
authors.affiliation: Neurology Service, Hospital Sant Joan de Déu, 2, CP 08950 Esplugues, Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Pancho
authors.forename: Angels
authors.initials: A
authors.lastname: Garcia-Cazorla
authors.forename: Vincente
authors.initials: V
authors.lastname: Varea
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Immaculada
authors.initials: I
authors.lastname: Ferrer
authors.forename: Maria A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: Juame
authors.initials: J
authors.lastname: Campistol
mesh_terms: D002648:Child; D005183:Failure to Thrive / Q000097:blood / Q000209:etiology; D006031:Glycosylation; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000235:genetics*; D009422:Nervous System Diseases / Q000209:etiology*; D000637:Transaminases / Q000097:blood*
chemical_list: D000637:Transaminases