S. Melançon

Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-α-d-N-acetylneuraminate) substrate

M. Potier, L. Mameli, M. Bélisle et al. · Analytical Biochemistry · 1979 · 824 citations

Life Sciences, Pharmaceutical Analysis, Enzymology +4

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.

S. Chamberlain, Jacqui Shaw, Julie Wallis et al. · PubMed · 1989 · 73 citations

Life Sciences, Genetics, Molecular Genetics +9

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

Beth McInnes, Nobuaki Wakamatsu, S. Melançon et al. · Journal of Clinical Investigation · 1992 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Metabolic and biochemical studies in fructose 1, 6-diphosphatase deficiency

S. Melançon, Avedis K. Khachadurian, Henry L. Nadler et al. · The Journal of Pediatrics · 1973 · 56 citations

Life Sciences, Biochemistry, Molecular Biology +16

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

Peter Hechtman, Feige Kaplan, Janet K. Bayleran et al. · PubMed · 1990 · 55 citations

Life Sciences, Genetics, Molecular Genetics +10