ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study ...

ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has...

The purpose of this study is to collect, store, and study blood samples from people with Lysosomal Storage Diseases (LSDs). Some examples of LSDs include Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidosis I. The samples from this study will provide...

The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registr...