Introduction: The hyperinsulinism hyperammonemia (HI/HA) syndrome manifests with fasting and protein-induced hypoglycemia, hyperammonemia, and neurodevelopmental features including epilepsy. There is
Data from Developmental Profile 4th Edition Form Study Description This is a multi-center 4 year natural history study of males with Creatine transporter deficiency (CTD). The goal of the study was to
VPS13D -related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizur
Data from Social Communication Questionnaire (Current) Study Description This is a multi-center 4 year natural history study of males with Creatine transporter deficiency (CTD). The goal of the study