[Disturbances in aminoglycan synthesis].
Jaeken
J
J
Department of paediatrics, University hospital Gasthuisberg, Leuven, Belgique.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics / Q000378:metabolism*; D002448:Cell Adhesion; D006031:Glycosylation; D016695:Glycosyltransferases / Q000172:deficiency*; D006801:Humans; D007962:Leukocytes / Q000502:physiology; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency*; D017351:N-Acetylglucosaminyltransferases / Q000172:deficiency*; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*
D016695:Glycosyltransferases; D017351:N-Acetylglucosaminyltransferases; C063312:beta-1,3-galactosyl-0-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase
Troubles de la synthèse des aminoglycanes.