Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America.
de Michelena
M I
MI
Franchi
L M
LM
Summers
P G
PG
De La Fuente
C
C
Campos
P J
PJ
Jaeken
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D007843:Latin America; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase