Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
<p>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. More than 250 variants in the GCDH gene have been reported with a varia...
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2019
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