| 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 |
| Journal | Journal of medical genetics
(J Med Genet)
Vol. 39
Issue 11
Pg. 849-51
(Nov 2002)
ISSN: 1468-6244 [Electronic] England |
| PMID | 12414827
(Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
|
| Chemical References |
- DNA, Complementary
- Mannose-6-Phosphate Isomerase
|
| Topics |
- 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
|
