Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, γ-hydroxybutyric aciduria)
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference43 articles.
1. Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts;Gibson;J Inherit Metab Dis,1985
2. Properties of succinic semialdehyde dehydrogenase in cultured human lyphoblasts;Gibson;J Neurogenet,1985
3. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency;Pearl;Neurology,2003
4. Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate;Pitt;J Inherit Metab Dis,1997
5. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria);Gibson;J Inherit Metab Dis,1998
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1. Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency;Journal of Inherited Metabolic Disease;2023-05-30
2. A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency;Journal of Child Neurology;2021-05-20
3. Disorders of Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2021-04-20
4. 123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency;Current Radiopharmaceuticals;2021-03-31
5. Succinic Semialdehyde Dehydrogenase Deficiency: An Update;Cells;2020-02-19
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