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Works
9
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
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