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

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 variable frequ...

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Библиографические подробности
Опубликовано в: :Metab Brain Dis
Главные авторы: Zayed, Hatem, El Khayat, Hamed, Tomoum, Hoda, Khalifa, Ola, Siddiq, Ehab, Mohammad, Shaimaa A., Gamal, Radwa, Shi, Zumin, Mosailhy, Ahmed, Zaki, Osama K.
Формат: Artigo
Язык:Inglês
Опубликовано: Springer US 2019
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Original Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6617250/
https://ncbi.nlm.nih.gov/pubmed/31062211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11011-019-00422-3
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