Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib

J Med Genet. 2002 Nov;39(11):849-51. doi: 10.1136/jmg.39.11.849.

Authors

S Vuillaumier-Barrot, C Le Bizec, P de Lonlay, A Barnier, G Mitchell, V Pelletier, C Prevost, J M Saudubray, G Durand, N Seta

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Congenital Disorders of Glycosylation / enzymology
Congenital Disorders of Glycosylation / genetics*
DNA Mutational Analysis
DNA, Complementary / chemistry
DNA, Complementary / genetics
Diarrhea, Infantile / pathology
Family Health
Haplotypes
Humans
Infant
Liver Cirrhosis / pathology*
Mannose-6-Phosphate Isomerase / deficiency
Mannose-6-Phosphate Isomerase / genetics
Mutation, Missense
Protein-Losing Enteropathies / pathology*
Quebec
Syndrome

Substances

DNA, Complementary
Mannose-6-Phosphate Isomerase