Succinic Semialdehyde Dehydrogenase Deficiency Latest Advances

Find the Latest Research About Succinic Semialdehyde Dehydrogenase Deficiency

Last Updated: 04/28/2026

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Found 212 publications

Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility.

Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility.

Journal: bioRxiv : the preprint server for biology
Published: April 03, 2026

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Journal: JIMD reports
Published: September 15, 2025

Severe epilepsy phenotypes in adults with succinic semialdehyde dehydrogenase deficiency: Novel clinical and therapeutic insights from an Italian multicenter retrospective cohort study.

Severe epilepsy phenotypes in adults with succinic semialdehyde dehydrogenase deficiency: Novel clinical and therapeutic insights from an Italian multicenter retrospective cohort study.

Journal: Seizure
Published: May 19, 2025

Anesthetic Management of a Pediatric Patient With Succinic Semialdehyde Dehydrogenase Deficiency Undergoing Dental Procedures.

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.

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.

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.

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.

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.

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.

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.

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

Deficient brain GABA metabolism leads to widespread impairments of astrocyte and oligodendrocyte function.

Deficient brain GABA metabolism leads to widespread impairments of astrocyte and oligodendrocyte function.

Journal: Glia
Published: April 03, 2024
Showing 1-12 of 212

Last Updated: 04/28/2026