Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics.
Jaeken
J
J
Department of Paediatrics, University of Leuven, Belgium.
Casaer
P
P
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017351:N-Acetylglucosaminyltransferases / Q000172:deficiency / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics
D017351:N-Acetylglucosaminyltransferases; C063312:beta-1,3-galactosyl-0-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase