Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1

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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Bibliographic Details
Main Author: Hatem Zayed (835448) (author)
Other Authors: Hamed El Khayat (14151372) (author), Hoda Tomoum (14151375) (author), Ola Khalifa (14151378) (author), Ehab Siddiq (14151381) (author), Shaimaa A. Mohammad (14151384) (author), Radwa Gamal (14151387) (author), Zumin Shi (287671) (author), Ahmed Mosailhy (14151390) (author), Osama K. Zaki (12198800) (author)
Published: 2019
Subjects:
Biomedical and clinical sciences
Neurosciences
Glutaric acidemia type 1
Glutaryl-CoA dehydrogenase
Macrocephaly
Genotype-phenotype correlations
Organic acidemia
Egypt
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