Enzymatic and Molecular Diagnosis of Gaucher Disease

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

Roscoe O. Brady, Julian N. Kanfer, David J. Shapiro · Biochemical and Biophysical Research Communications · 1965 · 805 citations

Life Sciences, Biochemistry, Molecular Biology +14

The human glucocerebrosidase gene and pseudogene: Structure and evolution

Mia Horowitz, Sylvia Wilder, Zeev Horowitz et al. · Genomics · 1989 · 433 citations

Life Sciences, Biochemistry, Genetics +12

A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease

Shoji Tsuji, Prabhakara V. Choudary, Brian M. Martin et al. · New England Journal of Medicine · 1987 · 343 citations

Life Sciences, Genetics, Molecular Genetics +17

PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL

Ari Zimran, E A Gross, Carol West et al. · The Lancet · 1989 · 278 citations

Life Sciences, Genetics, Molecular Genetics +11