Phosphomannoseisomerase deficiency as the cause of protein-losing enteropathy and congenital liver fibrosis.
Oren
A
A
Department of Pediatric Gastroenterology, Wilhelmina Childrens Hospital, Utrecht, The Netherlands.
Houwen
R H
RH
D018981:Congenital Disorders of Glycosylation / Q000378:metabolism* / Q000628:therapy; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000151:congenital / Q000209:etiology; D008358:Mannose / Q000627:therapeutic use; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency*; D011504:Protein-Losing Enteropathies / Q000209:etiology* / Q000628:therapy
D008359:Mannose-6-Phosphate Isomerase; D008358:Mannose