Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency

Abstract Background and aims To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency. Materials and methods This retrospective study evaluated the findings in 13 Chinese patients with SSADH defici...

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Detalhes bibliográficos

Principais autores:	Hui Dong, Xue Ma, Zhehui Chen, Huiting Zhang, Jinqing Song, Ying Jin, Mengqiu Li, Mei Lu, Ruxuan He, Yao Zhang, Yanling Yang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-06-01
coleção:	BMC Medical Genomics
Assuntos:	Succinic semialdehyde dehydrogenase deficiency 4-hydroxybutyric acid Γ-aminobutyric acid ALDH5A1 gene Novel variants
Acesso em linha:	https://doi.org/10.1186/s12920-024-01925-4
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