Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations

Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease

Vuk Koprivica, Deborah L. Stone, Joseph K. Park et al. · The American Journal of Human Genetics · 2000 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate

Stephen P. Peters, Patrick Coyle, Robert H. Glew · Archives of Biochemistry and Biophysics · 1976 · 198 citations

Life Sciences, Biochemistry, Molecular Biology +12

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

Arlyn Sibille, Christine M. Eng, S J Kim et al. · PubMed · 1993 · 158 citations

Life Sciences, Genetics, Molecular Genetics +16

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Ari Zimran, Terri Gelbart, Beryl Westwood et al. · PubMed · 1991 · 157 citations

Life Sciences, Genetics, Molecular Genetics +9

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

Ernest Beutler, Terri Gelbart, W Kühl et al. · Proceedings of the National Academy of Sciences · 1991 · 138 citations

Life Sciences, Genetics, Molecular Genetics +17