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Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome.
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论文共 310 篇作者统计合作学者相似作者
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Giampaolo Trivellin,Adrian Daly,Laura C. Hernández-Ramírez,Elisa Araldi,Christina Tatsi,Ryan K. Dale, Gus Fridell, Ayush Mittal,Fabio R. Faucz,James R. Iben,Tianwei Li,Eleonora Vitali,
medRxiv (Cold Spring Harbor Laboratory) (2023)
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Giampaolo Trivellin,Adrian F Daly,Laura C Hernandez-Ramirez,Elisa Araldi,Christina Tatsi,Ryan K Dale, Gus Fridell, Arjun Mittal,Fabio R Faucz,James R Iben,Tianwei Li,Eleonora Vitali,
Frontiers in endocrinology (2023): 1166076
Yaffa R. Rubinstein,Peter N. Robinson,William A. Gahl,Paul Avillach,Gareth Baynam, Helene Cederroth, Rebecca M. Goodwin,Stephen C. Groft,Mats G. Hansson,Nomi L. Harris,Vojtech Huser,Deborah Mascalzoni,
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