Carbohydrate-deficient glycoprotein syndrome: beyond the screen.
Fletcher
J M
JM
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia. jmfletch@medicine.adelaide.edu.au
Matthijs
G
G
Jaeken
J
J
Van Schaftingen
E
E
Nelson
P V
PV
D002478:Cells, Cultured; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000097:blood / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D017875:Phosphotransferases (Phosphomutases) / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D014168:Transferrin / Q000032:analysis; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis
D014168:Transferrin; D001619:beta-N-Acetylhexosaminidases; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase