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Last Updated: 10/31/2025
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Found 210 publications
Anesthetic Management of a Pediatric Patient With Succinic Semialdehyde Dehydrogenase Deficiency Undergoing Dental Procedures.
Journal: Case reports in anesthesiology
Published: May 15, 2025
Central Dysmyelination in SSADH-Deficient Humans and Mice.
Journal: Annals of clinical and translational neurology
Published: April 10, 2025
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism.
Journal: Molecular genetics and metabolism
Published: October 18, 2024
A crucial active site network of titratable residues guides catalysis and NAD+ binding in human succinic semialdehyde dehydrogenase.
Journal: Protein science : a publication of the Protein Society
Published: October 15, 2024
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Journal: Developmental medicine and child neurology
Published: July 05, 2024
An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant.
Journal: Cureus
Published: April 15, 2024
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls.
Journal: Stem cell research
Published: April 12, 2024
Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.
Journal: International journal of molecular sciences
Published: April 04, 2024
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.
Journal: Frontiers in genetics
Published: March 22, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease
Published: December 04, 2023
Last Updated: 10/31/2025