Home LiteratureArticle Details

PMID: 12414827 Published · ppublish English Case Reports Letter Research Support, Non-U.S. Gov't

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

Journal of medical genetics ·Vol. 39 ·No. 11 ·2002-11-00 ·Pages 849-51

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

Abstract

暂无摘要

MeSH Terms

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

Chemicals

DNA, Complementary Mannose-6-Phosphate Isomerase

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Vuillaumier-Barrot S

Le Bizec C

de Lonlay P

Barnier A

Mitchell G

Pelletier V

Prevost C

Saudubray J M

Durand G

Seta N

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.39.11.849

Published

2002-11-00

Pages

849-51

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1735008

Subset

External Links

PubMed source DOI: 10.1136/jmg.39.11.849 PMC Full Text View journal details

Analysis Services

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

Contact

WeChat Official Account