W Kühl

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes.

Ernest Beutler, W Kühl · PubMed · 1970 · 145 citations

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 · Full text

Genetic Testing, Genetics, Genetic Epidemiology +23

Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-

Ernest Beutler, W Kühl, JL Vives-Corrons et al. · Blood · 1989 · 136 citations · Full text

Mutations in Jewish patients with Gaucher disease

Ernest Beutler, Terri Gelbart, W Kühl et al. · Blood · 1992 · 127 citations · Full text

Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation.

Ernest Beutler, George L. Dale, D E Guinto et al. · Proceedings of the National Academy of Sciences · 1977 · 123 citations · Full text

New Enzyme Preparation, Enzyme Replacement Therapy, Preliminary Clinical Trial +12