Ratings
0
Nobody has rated this yet. Be the first!
Works
8
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa
Invited article: an MRI-based approach to the diagnosis of white matter disorders
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
Investigating Fabry disease - some lessons learned
Fabry disease
Lamin B1 duplications cause autosomal dominant leukodystrophy
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
