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  1. Article

    Open Access

    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

    Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental D...

    Itay Tokatly Latzer, Jean-Baptiste Roullet… in Journal of Neurodevelopmental Disorders (2024)

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    Article

    Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

    To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of γ-aminobutyric acid catabolism. Bioinformatics an...

    Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro… in Human Genetics (2023)