Disease: Succinic semialdehyde dehydrogenase deficiency
- A Metabolic Network Mediating the Cycling of Succinate, a Product of ROS Detoxification into α-Ketoglutarate, an Antioxidant
- ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications
- ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations
- An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant
- Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency
- Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency
- 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
- Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
- Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency
- Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
- Deficient brain GABA metabolism leads to widespread impairments of astrocyte and oligodendrocyte function
- Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency
- Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism
- Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency
- Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency
- Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
- Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls
- Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency
- Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency
- Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD)
- Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants
- Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
- Proceedings of the International SSADH Deficiency 2020 Conference
- Quantitation of γ-Aminobutyric Acid in Cerebrospinal Fluid Using Liquid Chromatography-Electrospray-Tandem Mass Spectrometry
- Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of gamma-aminobutyric acid metabolism
- Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism
- Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
- Succinic Semialdehyde Dehydrogenase Deficiency
- Succinic Semialdehyde Dehydrogenase Deficiency
- Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective
- Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis
- Succinic semialdehyde dehydrogenase deficiency: A model of neurocircuit imbalances in autism and potential insight into new biomarkers
- The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
- The presence and severity of epilepsy coincide with reduced gamma-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
- The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
- Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine
- Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders