Carbohydrate deficient glycoprotein (CDG) syndrome type I.
Jaeken
J
J
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Matthijs
G
G
Barone
R
R
Carchon
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002081:Buttocks / Q000002:abnormalities*; D002478:Cells, Cultured; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D006023:Glycoproteins / Q000097:blood; D006801:Humans; D008297:Male; D009558:Nipples / Q000002:abnormalities*; D009679:Nuclear Family
D006023:Glycoproteins