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Pediatric Research|February 22, 2003
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroupJoseph K Park, Eduard Orvisky, Nahid Tayebi, et al.
Molecular Genetics and Metabolism Reports|August 17, 2021
Long-term follow-up of renal function in patients treated with migalastat for Fabry diseaseDaniel G Bichet, Roser Torra, Eric Wallace, et al.
Journal of the American College of Cardiology|November 13, 2002
Cardiac manifestations of Anderson-Fabry disease in heterozygous femalesChristoph Kampmann, Frank Baehner, Catharina Whybra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2019
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published casesShoko Komatsuzaki, Matthias Zielonka, William K Mountford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2020
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathiesJulian Schröter, Jan H Döring, Sven F Garbade, et al.
Biochemical and Biophysical Research Communications|May 29, 2007
Screening for pharmacological chaperones in Fabry diseaseSang-Hoon Shin, Gary J Murray, Stefanie Kluepfel-Stahl, et al.
Advances in Therapy|May 27, 2024
Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP)Raphael Schiffmann, Eugen Mengel, Mary Wallace, et al.
Pharmacogenetics and Genomics|August 14, 2008
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperoneSang H Shin, Stefanie Kluepfel-Stahl, Adele M Cooney, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 17, 2009
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapyRaphael Schiffmann, David G Warnock, Maryam Banikazemi, et al.
Journal of Inherited Metabolic Disease|March 11, 2016
Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry miceXing-Li Meng, Taniqua S Day, Nathan McNeill, et al.
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