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
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Brennenstuhl H et al.
International Journal of Molecular Sciences, 2020
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
Menduti G et al.
Molecular Genetics and Metabolism, 2018
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