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

Tarih
2014
Yazar
Koelker, Stefan
Gokcay, Gülden Fatma
Burlina, Alberto B.
Burgard, Peter
Demirkol, Mubeccel
Garbade, Sven F.
Greenberg, Cheryl R.
Ribes, Antonia
Campistol, Jaume
Üst veri
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/132769
https://doi.org/10.1007/s10545-014-9676-9
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