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Journal Article
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PLoS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, p. e0186919
Journal Article
Journal Article
Journal Article
Neurochemistry International, ISSN 0197-0186, 10/2016, Volume 99, pp. 72 - 84
Discovered some 35 years ago, succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a rare, autosomal recessively-inherited defect in the second... 
Succinic semialdehyde dehydrogenase deficiency (SSADHD) | Pathogenic mutations | GHB (4-hydroxybutyric acid) | GWAS | Pathophysiology | Genome wide association study | Oxidative damage | Multifactorial traits | Mitophagy | Polymorphisms | SNP (single nucleotide polymorphism) | Autophagy | Knockout mouse model | GABAergic neurotransmission | GABA (4-aminobutyric acid) | Neurological disease | Crystal structure | GAMMA-HYDROXYBUTYRIC ACID | ALDEHYDE DEHYDROGENASE | NEUROLOGICAL DISORDERS | REDOX-SWITCH MODULATION | OXIDATIVE STRESS | MICE DEFICIENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUROSCIENCES | 4-HYDROXYBUTYRIC ACIDURIA | ALDH5A1 MUTATION | D-2-HYDROXYGLUTARIC ACID | HUMAN-BRAIN | Developmental Disabilities - physiopathology | Developmental Disabilities - metabolism | gamma-Aminobutyric Acid - metabolism | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Succinate-Semialdehyde Dehydrogenase - genetics | Genetic Association Studies - methods | Developmental Disabilities - genetics | Succinate-Semialdehyde Dehydrogenase - deficiency | Multifactorial Inheritance - physiology | Amino Acid Metabolism, Inborn Errors - metabolism | Animals | Amino Acid Metabolism, Inborn Errors - genetics | Succinate-Semialdehyde Dehydrogenase - metabolism | Analysis | Genes | Epilepsy | Physiological aspects | GABA | Single nucleotide polymorphisms | Gene expression | Medical research | Enzymes | Nervous system diseases | Genomics | Crystals | Medicine, Experimental | Structure | autophagy | multifactorial traits | neurological disease | oxidative damage | pathogenic mutations | knockout mouse model | polymorphisms | mitophagy | succinic semialdehyde dehydrogenase deficiency (SSADHD) | pathophysiology | crystal structure | genome wide association study
Journal Article