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Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
(
Springer US
, 2016 , Article)
Abstract To characterize an Egyptian patient with glutaric
acidemia type I (GA I) and to identify the causative mutation(
s) that may be responsible for the disease phenotype.
MRI was performed on the patient using the ...
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. ...