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Raphael Schiffmann
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researcher
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Works
8
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
scientific article
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa
scientific article published on 16 May 2013
Invited article: an MRI-based approach to the diagnosis of white matter disorders
scientific article published on February 2009
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
scientific article
Investigating Fabry disease - some lessons learned
scholarly article
Fabry disease
scientific article published on 08 February 2009
Lamin B1 duplications cause autosomal dominant leukodystrophy
scientific article
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
scientific article
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