Associated Papers
Central Dysmyelination in SSADH-Deficient Humans and Mice.
Tokatly Latzer I et al.
Annals of Clinical and Translational Neurology, 2025
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
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I et al.
Developmental Medicine and Child Neurology, 2023
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
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I et al.
Epilepsia, 2023
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
Pearl PL et al.
Journal of Child Neurology, 2021
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
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
DiBacco ML et al.
Neurology, 2020
Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.
Chen XD et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2020
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Fattahi M et al.
Gene, 2020
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