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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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| 出版年: | BMC Med Genet |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2019
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| 主題: | |
| オンライン･アクセス: | 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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