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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Autori principali:	Hui Dong, Xue Ma, Zhehui Chen, Huiting Zhang, Jinqing Song, Ying Jin, Mengqiu Li, Mei Lu, Ruxuan He, Yao Zhang, Yanling Yang
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2024-06-01
Serie:	BMC Medical Genomics
Soggetti:	Succinic semialdehyde dehydrogenase deficiency 4-hydroxybutyric acid Γ-aminobutyric acid ALDH5A1 gene Novel variants
Accesso online:	https://doi.org/10.1186/s12920-024-01925-4
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