Concepedia

Author

Sylvie I. Demers

Centre Hospitalier Universitaire Sainte-Justine

Also Known As

S I Demers, S.I. Demers, Sylvie I Demers, Sylvie I. Demers

8

Publications

240

Citations

4

H-Index

8

Concepts

All Affiliations

Centre Hospitalier Universitaire Sainte-Justine
SI

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

1

1

69

2

Hepatology

1

1

69

3

Pathology

1

1

69

4

Clinical Genetics

1

1

69

5

Genetic Epidemiology

1

1

69

Sylvie I. Demers

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3

Publications

225

Citations

3

H-Index

YearCitations

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

Markus Grompe, Maryse St.-Louis, Sylvie I. Demers,

New England Journal of Medicine

1994

134

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

Sylvie I. Demers, Pierre Russo, Francine Lettre,

Human Pathology

2003

69

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

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