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个人简介
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.
Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency. He has published more than 450 peer-reviewed papers and trained 42 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served on the board of directors of the ABMG and ASHG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians.
Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards.
Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency. He has published more than 450 peer-reviewed papers and trained 42 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served on the board of directors of the ABMG and ASHG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians.
Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards.
研究兴趣
论文共 924 篇作者统计合作学者相似作者
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Journal of Neuroimmunology (2024)
Aryan Zahergivar, Fatemeh Dehghani Firouzabadi, Fatemeh Homayounieh, Mahshid Golagha,Fahimul Huda,Nadia Biassou,Ritu Shah,Moozhan Nikpanah,Mojdeh Mirmomen,Faraz Farhadi,Rahul H. Dave, Skand Shekhar,William A. Gahl,Juvianee I. Estrada-Veras, Ashkan A. Malayeri, Kevin O'Brien
Clinical Imagingpp.110281, (2024)
M. Arif, A. Basu, B.L.G. Zuo, M.X.G. Zuo,K.J. O’Brien, M. Behan,W. Introne, G. Frost, R. Moaddel,W.A. Gahl, M. Malicdan,R. Cinar, B. Gochuico
B29 BIOMARKERS AND NEW THERAPEUTICS TARGETS IN LUNG FIBROSIS (2024)
Genetics in Medicine Open (2024): 101277
MOLECULAR GENETICS AND METABOLISMno. 1 (2024): 108125-108125
medRxiv : the preprint server for health sciences (2024)
Nature Reviews Disease Primersno. 1 (2024): 13-13
Clinical imaging (2024): 110067-110067
Elisa A. Ferrante,Cornelia D. Cudrici, Mahmood Rashidi,Yi-Ping Fu,Rebecca Huffstutler,Katherine Carney,Marcus Y. Chen,Cynthia St Hilaire, Kevin Smith, Hadi Bagheri,James D. Katz,Carlos R. Ferreira,William A. Gahl, Manfred Bohm,Alessandra Brofferio
Vascular medicine (2024)
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作者统计
#Papers: 923
#Citation: 29762
H-Index: 89
G-Index: 142
Sociability: 9
Diversity: 0
Activity: 5
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