Werke:
- Characterisation of novel α-galactosidase [alpha-galactosidase] A mutations in Fabry disease based on in vitro, in vivo and pharmacological data
- A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
- Characterisation of novel α-galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data
- Defects in the retina of Niemann-pick type C 1 mutant mice