Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
Dupre
T
T
Laboratoire de Biochimie A, Hôpital Bichat, 75877 Paris Cédex 18, France.
Cuer
M
M
Barrot
S
S
Barnier
A
A
Cormier-Daire
V
V
Munnich
A
A
Durand
G
G
Seta
N
N
D000293:Adolescent; D000328:Adult; D015153:Blotting, Western; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D005260:Female; D006023:Glycoproteins / Q000097:blood*; D006801:Humans; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000097:blood / Q000172:deficiency*
D006023:Glycoproteins; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase