title: Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
authors.forename: S
authors.initials: S
authors.lastname: Vuillaumier-Barrot
authors.forename: C
authors.initials: C
authors.lastname: Le Bizec
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
authors.forename: A
authors.initials: A
authors.lastname: Barnier
authors.forename: G
authors.initials: G
authors.lastname: Mitchell
authors.forename: V
authors.initials: V
authors.lastname: Pelletier
authors.forename: C
authors.initials: C
authors.lastname: Prevost
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: G
authors.initials: G
authors.lastname: Durand
authors.forename: N
authors.initials: N
authors.lastname: Seta
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D018981:Congenital Disorders of Glycosylation / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D003968:Diarrhea, Infantile / Q000473:pathology; D005192:Family Health; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000473:pathology*; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency / Q000235:genetics; D020125:Mutation, Missense; D011504:Protein-Losing Enteropathies / Q000473:pathology*; D011792:Quebec; D013577:Syndrome
chemical_list: D018076:DNA, Complementary; D008359:Mannose-6-Phosphate Isomerase