Associated Papers
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
Kiss S et al.
Jimd Reports, 2026
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
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Tokatly Latzer I et al.
Journal of Neurodevelopmental Disorders, 2024
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Afshar-Saber W et al.
Neurobiology of 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
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
Pearl PL et al.
Journal of Child Neurology, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Cerminara M et al.
Frontiers in Genetics, 2021
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
DiBacco ML et al.
Neurology, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Didiášová M et al.
Cells, 2020
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
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
Pearl PL et al.
Developmental Medicine and Child Neurology, 2015
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
Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease.
Posso Gomez LJ et al.
Neurologia, 0
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.
Manrique Martín G et al.
Neurologia, 0