Associated Papers
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
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
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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