تصفح حسب الموضوع "Glutaric acidemia type 1"
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Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
( Springer , 2019 , Article)Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. ...