Concepedia

Sylvie I. Demers

SI

3

Publications

225

Citations

3

H-Index

1994

Active since

Affiliations

Centre Hospitalier Universitaire Sainte-Justine(Current)

Sylvie I. Demers is an author at Centre Hospitalier Universitaire Sainte-Justine specializing in liver physiology, inherited metabolic disease, and clinical genetics.

Top concepts

Publications per year

1994–2003

3

Publications

3

A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I

Markus Grompe, Maryse St.-Louis, Sylvie I. Demers et al. · New England Journal of Medicine · 1994 · 134 citations · Full text

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia

Sylvie I. Demers, Pierre Russo, Francine Lettre et al. · Human Pathology · 2003 · 69 citations

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Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

Sylvie I. Demers, Daniel J. Phaneuf, Robert M. Tanguay · PubMed · 1994 · 22 citations

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