Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-009-1154-4
Reference29 articles.
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2. Blasi P, Boyl PP, Ledda M, et al (2002) Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab 76: 348–362. doi: 10.1016/S1096-7192(02)00105-1
3. Bradfield YS, France TD, Verhoeve J, Gangnon RE (2007) Sweep visual evoked potential testing as a predictor of recognition acuity in albinism. Arch Ophthalmol 125: 628–633. doi: 10.1001/archopht.125.5.628
4. Brown GK, Cromby CH, Manning NJ, Pollitt RJ (1987) Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation. J Inherit Metab Dis 10: 367–375. doi: 10.1007/BF01799979
5. Buzzi A, Wu Y, Frantseva MV, et al (2006) Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. Brain Res 1090: 15–22. doi: 10.1016/j.brainres.2006.02.131
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1. Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre–Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions;Journal of Child Neurology;2021-03-23
2. 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
3. Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency;Molecular Genetics and Metabolism;2020-07
4. Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability;Molecular Genetics and Metabolism;2018-07
5. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site;Metabolic Brain Disease;2017-06-29
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