Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
Vuillaumier-Barrot
S
S
Le Bizec
C
C
de Lonlay
P
P
Barnier
A
A
Mitchell
G
G
Pelletier
V
V
Prevost
C
C
Saudubray
J M
JM
Durand
G
G
Seta
N
N
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
D018076:DNA, Complementary; D008359:Mannose-6-Phosphate Isomerase