Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.


Garbade S. F. , Greenberg C. R. , Demirkol M., Gokcay G. F. , Ribes A., Campistol J., ...Daha Fazla

Journal of inherited metabolic disease, cilt.37, ss.763-73, 2014 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 37 Konu: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1007/s10545-014-9676-9
  • Dergi Adı: Journal of inherited metabolic disease
  • Sayfa Sayıları: ss.763-73

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.