Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
Jaeken
J
J
Matthijs
G
G
Saudubray
J M
JM
Dionisi-Vici
C
C
Bertini
E
E
de Lonlay
P
P
Henri
H
H
Carchon
H
H
Schollen
E
E
Van Schaftingen
E
E
D000595:Amino Acid Sequence; D018981:Congenital Disorders of Glycosylation / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007410:Intestinal Diseases / Q000201:enzymology*; D008107:Liver Diseases / Q000201:enzymology*; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency*; D008969:Molecular Sequence Data; D013577:Syndrome
D008359:Mannose-6-Phosphate Isomerase