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个人简介
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.
研究兴趣
论文共 528 篇作者统计合作学者相似作者
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Jyoti Asundi,Chunlian Zhang,Diana Donnelly-Roberts,Josè Zavala Solorio, Malleswari Challagundla,Caitlin Connelly, Christina Boch, Jun Chen,Mario Richter, Mohammad Mehdi Maneshi,Andrew M Swensen,Lauren Lebon,
bioRxiv (Cold Spring Harbor Laboratory)no. 2 (2024): e14600-e14600
William C. Hallows, Kristen Skvorak,Nick Agard,Nikki Kruse,Xiyun Zhang, Yu Zhu,Rachel C. Botham,Chinping Chng,Charu Shukla,Jessica Lao,Mathew Miller,Antoinette Sero,
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,
Genetics in Medicine Openno. 1 (2023): 100114-100114
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The Journal of Nutritionno. 7 (2023): 1994-2003
Paulina Dabrowska‐Schlepp,Andreas Büsch,Jinsong Shen,Rachel Y. Cheong,Lone Bruhn Madsen,Daniel Mascher,Raphael Schiffmann, Andreas Schaaf
JIMD reportsno. 6 (2023): 460-467
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Orphanet journal of rare diseasesno. 1 (2023): 187-17
William C. Hallows, Kristen Skvorak,Nick Agard,Nikki Kruse,Xiyun Zhang, Yu Zhu,Rachel C. Botham,Chinping Chng,Charu Shukla,Jessica Lao,Mathew Miller,Antoinette Sero,
SCIENTIFIC REPORTSno. 1 (2023)
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Raphael Schiffmann,Ozlem Goker-Alpan,Jerry Vockley,William R. Wilcox, Damara Ortiz,Molly Nie,Jinsong Shen, Fatemeh Tavakkoli, David Kirn, Robert Fishman
Molecular Genetics and Metabolismno. 2 (2023): 107306
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