Link to registry and statistics
The web-based password-protected registry has been established to include standardised follow-up investigations of children and adults with a homocystinuria, methylation or folate defect. The aim is to collect information on 600 individuals in Europe by the end of the project. Patients will be followed using a standardised assessment schedule including basic data, family history, age at diagnosis, first symptoms, frequency and duration of hospitalisation, medical and developmental history, physical and neurological examination, MRI studies, neuropsychological tests, and quality of life assessment. Data will be entered at least once a year.