基本信息
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Bio
Dr. Schiffmann has been performing pre-clinical and clinical research on lysosomal storage diseases since 1991 with a special focus on the natural history, pathogenesis and therapy of Fabry disease, Gaucher disease and the leukodystrophies. One of his particular interests and areas of expertise is to address patients with undiagnosed neurological diseases. Dr. Schiffmann has published 276 peer-reviewed research articles and over 15 book chapters.
Research Interests
Papers共 523 篇Author StatisticsCo-AuthorSimilar Experts
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Raphael Schiffmann,James Turnbull,Robert Krupnick, Ruth Pulikottil-Jacob,Chad Gwaltney,Alaa Hamed, Isabela Batsu, Walter Heine,Eugen Mengel
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-12
Nephronpp.1-7, (2025)
Journal of inherited metabolic diseaseno. 3 (2025): e70034-e70034
Rare Disease and Orphan Drugs Journalno. 1 (2024)
Jyoti Asundi,Chunlian Zhang,Diana Donnelly-Roberts,Jose Zavala Solorio, Malleswari Challagundla,Caitlin Connelly, Christina Boch, Jun Chen,Mario Richter, Mohammad Mehdi Maneshi,Andrew M. Swensen,Lauren Lebon,Raphael Schiffmann, Subhabrata Sanyal,Carmela Sidrauski,Ganesh Kolumam,Amos Baruch
CNS Neuroscience & Therapeuticsno. 2 (2024)
Rebecca Koch,Claudia Soler-Alfonso,Bridget Kiely,Akihiro Asai,Ariana Smith,Deeksha Bali, Peter Kang,Andrew Landstrom,H. Orhan Akman,T. Andrew Burrow,Jennifer Orthmann-Murphy, Deberah Goldman,Surekha Pendyal,Areeg El-Gharbawy,Stephanie Austin,Laura Case,Raphael Schiffmann,Michio Hirano,Priya Kishnani
Genetics in Medicine Openno. 1 (2023): 100114-100114
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Author Statistics
#Papers: 523
#Citation: 25637
H-Index: 89
G-Index: 149
Sociability: 8
Diversity: 4
Activity: 20
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