Phenotypic and genotypic heterogeneity in Gaucher disease type 1: A comparison between Brazil and the rest-of-the-world

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

The Gaucher Registry

Joel Charrow, Hans C. Andersson, Paige Kaplan et al. · Archives of Internal Medicine · 2000 · 585 citations

Life Sciences, Genetics, Molecular Genetics +17

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Neal J. Weinreb, Joel Charrow, Hans C. Andersson et al. · The American Journal of Medicine · 2002 · 541 citations

Life Sciences, Genetics, Pharmacotherapy +9

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease.

Norman W. Barton, F S Furbish, Gary J. Murray et al. · Proceedings of the National Academy of Sciences · 1990 · 370 citations

Medicine, Hematology, Pharmacology +15

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