Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.
Pancho
Cristina
C
Neurology Service, Hospital Sant Joan de Déu, 2, CP 08950 Esplugues, Barcelona, Spain.
Garcia-Cazorla
Angels
A
Varea
Vincente
V
Artuch
Rafael
R
Ferrer
Immaculada
I
Vilaseca
Maria A
MA
Briones
Paz
P
Campistol
Juame
J
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*
D000637:Transaminases