Introduction: The hyperinsulinism hyperammonemia (HI/HA) syndrome manifests with fasting and protein-induced hypoglycemia, hyperammonemia, and neurodevelopmental features including epilepsy. There is
The purpose is to evaluate the course of disease progression in MPS IIIA patients who are untreated to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via
This study is a longitudinal multidisciplinary investigation on the natural history, morbidity and mortality of Angelman Syndrome (AS). We will collect detailed longitudinal data on a cohort of AS ind
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all ra
