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Medicine|November 1, 1992
Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patientsA Zimran, A Kay, T Gelbart, et al.Blood|December 9, 2000
Molecular characterization of a case of atransferrinemiaE Beutler, T Gelbart, P Lee, et al.Blood Cells, Molecules & Diseases|January 1, 1995
The clinical course of treated and untreated Gaucher disease. A study of 45 patientsE Beutler, A Demina, K Laubscher, et al.Blood Cells, Molecules & Diseases|December 9, 2000
A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypesM Iancovici-Kidon, D Sthoeger, A Abrahamov, et al.American Journal of Human Genetics|January 1, 1993
Gaucher disease: gene frequencies in the Ashkenazi Jewish populationE Beutler, N J Nguyen, M W Henneberger, et al.Blood Cells, Molecules & Diseases|October 13, 2009
Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemiaE Beutler, C Van Geet, D M W M te Loo, et al.The New England Journal of Medicine|December 3, 1992
A less costly regimen of alglucerase to treat Gaucher's diseaseM L Figueroa, B E Rosenbloom, A C Kay, et al.British Journal of Haematology|February 13, 2001
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studiesJ L Corrons, R Alvarez, A Pujades, et al.Proceedings of the National Academy of Sciences of the United States of America|June 15, 1993
Gaucher disease as a paradigm of current issues regarding single gene mutations of humansE BeutlerPageof 42