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Molecular Medicine (Cambridge, Mass.)|November 1, 1994
Glucocerebrosidase mutations in Gaucher diseaseE Beutler, A Demina, T GelbartProceedings of the National Academy of Sciences of the United States of America|July 8, 1998
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?E Beutler, T Gelbart, A DeminaBlood Cells, Molecules & Diseases|January 1, 1995
Five new Gaucher disease mutationsE Beutler, T Gelbart, A Demina, et al.Blood Cells, Molecules & Diseases|August 22, 2000
A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutationE Beutler, T GelbartHuman Mutation|January 1, 1994
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletionE Beutler, T GelbartThe Journal of Laboratory and Clinical Medicine|May 1, 1985
Plasma glutathione in health and in patients with malignant diseaseE Beutler, T GelbartGenetic Testing|August 23, 2000
Large-scale screening for HFE mutations: methodology and costE Beutler, T GelbartBritish Journal of Haematology|October 1, 1993
Gaucher disease mutations in non-Jewish patientsE Beutler, T GelbartClinica Chimica Acta; International Journal of Clinical Chemistry|July 15, 1986
Improved assay of the enzymes of glutathione synthesis: gamma-glutamylcysteine synthetase and glutathione synthetaseE Beutler, T GelbartPageof 58