Associated Papers
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
Kiss S et al.
Jimd Reports, 2026
Central Dysmyelination in SSADH-Deficient Humans and Mice.
Tokatly Latzer I et al.
Annals of Clinical and Translational Neurology, 2025
Severe epilepsy phenotypes in adults with succinic semialdehyde dehydrogenase deficiency: Novel clinical and therapeutic insights from an Italian multicenter retrospective cohort study.
Canafoglia L et al.
Seizure, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.
Didiasova M et al.
International Journal of Molecular Sciences, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA et al.
Journal of Inherited Metabolic Disease, 2024
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.
Glinton KE et al.
Frontiers in Genetics, 2024
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
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
DiBacco ML et al.
Neurology, 2020
Novel mutations in two unrelated Italian patients with SSADH deficiency.
Balzarini M et al.
Metabolic Brain Disease, 2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
Pearl PL et al.
Developmental Medicine and Child Neurology, 2015
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.
Casarano M et al.
Jimd Reports, 2012
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.
Kim KJ et al.
Antioxidants & Redox Signaling, 2011
Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.
Wang LL et al.
Alcohol (fayetteville, N.y.), 2010
The X-ray crystal structure of Escherichia coli succinic semialdehyde dehydrogenase; structural insights into NADP+/enzyme interactions.
Langendorf CG et al.
Plos One, 2010
Redox-switch modulation of human SSADH by dynamic catalytic loop.
Kim YG et al.
The Embo Journal, 2009
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
Struys EA et al.
Molecular Genetics and Metabolism, 2006
Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.
Aligianis IA et al.
Journal of Inherited Metabolic Disease, 2002