Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy.
de Koning
T J
TJ
Dorland
L
L
van Berge Henegouwen
G P
GP
D006801:Humans; D008103:Liver Cirrhosis / Q000151:congenital / Q000201:enzymology* / Q000209:etiology; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency*; D008661:Metabolism, Inborn Errors / Q000150:complications*; D011504:Protein-Losing Enteropathies / Q000151:congenital / Q000201:enzymology* / Q000209:etiology
D008359:Mannose-6-Phosphate Isomerase