Associated Papers
Central Dysmyelination in SSADH-Deficient Humans and Mice.
Tokatly Latzer I et al.
Annals of Clinical and Translational Neurology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
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
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.
Attri SV et al.
Jimd Reports, 2017
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
Pearl PL et al.
Developmental Medicine and Child Neurology, 2015
Select a paper to view details