Joe T.R. Clarke

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Y. Tatuch, John Christodoulou, Annette Feigenbaum et al. · PubMed · 1992 · 484 citations

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

Gustavo Maegawa, Michael B. Tropak, Justin Buttner et al. · Journal of Biological Chemistry · 2009 · 328 citations · Full text

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Gregory M. Pastores, Pamela Arn, Michael Beck et al. · Molecular Genetics and Metabolism · 2007 · 203 citations

Mucopolysaccharidosis Type, Medicine, International Health +8

Initial report from the Hunter Outcome Survey

J. E. Wraith, Michael Beck, Roberto Giugliani et al. · Genetics in Medicine · 2008 · 186 citations

Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis

Gustavo Maegawa, Michael B. Tropak, Justin Buttner et al. · Journal of Biological Chemistry · 2007 · 176 citations · Full text

Late-onset Forms, Antiparasitic Agent, Glycobiology +16