Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
Jaeken
J
J
Department of Pediatrics, University of Leuven, Belgium.
Artigas
J
J
Barone
R
R
Fiumara
A
A
de Koning
T J
TJ
Poll-The
B T
BT
de Rijk-van Andel
J F
JF
Hoffmann
G F
GF
Assmann
B
B
Mayatepek
E
E
Pineda
M
M
Vilaseca
M A
MA
Saudubray
J M
JM
Schlüter
B
B
Wevers
R
R
Van Schaftingen
E
E
D018981:Congenital Disorders of Glycosylation / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007525:Isoelectric Focusing; D007962:Leukocytes / Q000201:enzymology; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase