Article
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
Annals of neurology - 1 Jan 1999
van der Knaap M S, Jakobs C, Hoffmann G F, Nyhan W L, Renier W O, Smeitink J A, Catsman-Berrevoets C E, Hjalmarson O, Vallance H, Sugita K, Bowe C M, Herrin J T, Craigen W J, Buist N R, Brookfield D S, Chalmers R A
Abstract excerpt
D-2-Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D-2-hydroxyglutaric aciduria was initiated to solve this issue....
Topics
- Biomarkers
- Cerebral Ventricles
- Child, Preschool
- Chorea
- Cysts
- Ependyma
- Epilepsy
- Family Health
- Female
- Glutarates
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Muscle Hypotonia