SSADH deficiency possibly associated with enzyme activity-reducing SNPs
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference11 articles.
1. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency;Pearl;Neurology,2003
2. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency;Malaspina;Hum Genomics,2009
3. SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions;Blasi;J Mol Evol,2006
4. Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry;Kuhara;J Chromatogr B Biomed Sci Appl,2001
5. Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency;Ergezinger;Ann Neurol,2003
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1. The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency;Journal of Inherited Metabolic Disease;2024-03-18
2. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity;Journal of Child Neurology;2021-02-24
3. Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1;International Journal of Molecular Sciences;2020-11-13
4. Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer’s Disease;Journal of Alzheimer's Disease;2020-09-01
5. Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency;Molecular Genetics and Metabolism;2020-07
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