Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

BACKGROUND: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessively-inherited defect of γ-aminobutyric acid (GABA) metabolism. The absence of SSADH, which is encoded by aldehyde dehydrogenase family 5 member A1 (ALDH5A1) gene, leads to the accumulation of GABA and γ-hy...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Wang, Ping, Cai, Fengying, Cao, Lirong, Wang, Yizheng, Zou, Qianqian, Zhao, Peng, Wang, Chao, Zhang, Yuqin, Cai, Chunquan, Shu, Jianbo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6532217/
https://ncbi.nlm.nih.gov/pubmed/31117962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0821-z
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