Associated Papers
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.
Glinton KE et al.
Frontiers in Genetics, 2024
39011401 (PubMed )
Supplement: Table1.xlsx › Table_S1
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Tokatly Latzer I et al.
Human Genetics, 2023
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
Latzer IT et al.
Research Square, 2023
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
Wang P et al.
Bmc Medical Genetics, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
Pearl PL et al.
Developmental Medicine and Child Neurology, 2015
[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].
Jiang SZ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
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