Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib.
Neele
D M
DM
Department of Clinical Chemistry, Free University Hospital Amsterdam, The Netherlands. am.neele@azvu.nl
Kneepkens
C M
CM
Verhoeven
N M
NM
Jakobs
C
C
D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D014168:Transferrin / Q000235:genetics / Q000378:metabolism
D014168:Transferrin