Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability

Giovanna Menduti, Elisa Biamino, Roberta Vittorini, Serena Vesco, Maria Paola Puccinelli, Francesco Porta, Concetta Capo, Bianca Maria Ciminelli, Federico Iacovelli, Marco Spada,

Molecular Genetics and Metabolism · 2018 · 19 citations · 21 references

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