Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Journal of inherited metabolic disease, cilt.37, sa.5, ss.763-73, 2014 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 37 Sayı: 5
- Basım Tarihi: 2014
- Doi Numarası: 10.1007/s10545-014-9676-9
- Dergi Adı: Journal of inherited metabolic disease
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.763-73
- İstanbul Üniversitesi Adresli: Evet
Özet
Background Glutaric aciduria type I (GA-I) is a cerebral organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase and is characterized biochemically by an accumulation of putatively neurotoxic dicarboxylic metabolites. The majority of untreated patients develops a complex movement disorder with predominant dystonia during age 3-36 months. Magnetic resonance imaging (MRI) studies have demonstrated striatal and extrastriatal abnormalities.