Phosphomannoseisomerase deficiency as the cause of protein-losing enteropathy and congenital liver fibrosis

J Pediatr Gastroenterol Nutr. 1999 Aug;29(2):231-2. doi: 10.1097/00005176-199908000-00026.

Authors

A Oren¹, R H Houwen

Affiliation

¹ Department of Pediatric Gastroenterology, Wilhelmina Childrens Hospital, Utrecht, The Netherlands.

PMID: 10435667
DOI: 10.1097/00005176-199908000-00026

No abstract available

MeSH terms

Congenital Disorders of Glycosylation / metabolism*
Congenital Disorders of Glycosylation / therapy
Humans
Infant
Liver Cirrhosis / congenital
Liver Cirrhosis / etiology
Mannose / therapeutic use
Mannose-6-Phosphate Isomerase / deficiency*
Protein-Losing Enteropathies / etiology*
Protein-Losing Enteropathies / therapy

Substances

Mannose-6-Phosphate Isomerase
Mannose