'Succinic Semialdehyde Dehydrogenase Deficiency: Phenotype Evolution in an Adolescent Patient at 20-year Follow-up'
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Citing Articles
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.
Di Rosa G, Malaspina P, Blasi P, Dionisi-Vici C, Rizzo C, Tortorella G J Inherit Metab Dis. 2009; 32 Suppl 1:S201-5.
PMID: 19484191 PMC: 2888988. DOI: 10.1007/s10545-009-1154-4.
References
1.
Gibson K, Hoffmann G, Nyhan W, Aramaki S, Thompson J, Goodman S
. 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions. Eur J Pediatr. 1988; 147(5):529-31.
DOI: 10.1007/BF00441983.
View
2.
Gibson K, Jakobs C, Pearl P, Snead O
. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life. 2005; 57(9):639-44.
DOI: 10.1080/15216540500264588.
View
3.
Wu Y, Buzzi A, Frantseva M, Velazquez J, Cortez M, Liu C
. Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Ann Neurol. 2005; 59(1):42-52.
DOI: 10.1002/ana.20686.
View
4.
Mehta A, Gould G, Gupta M, Carter L, Gibson K, Ticku M
. Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain. Mol Genet Metab. 2006; 88(1):86-9.
DOI: 10.1016/j.ymgme.2005.11.012.
View
5.
Jansen E, Struys E, Jakobs C, Hager E, Snead O, Gibson K
. Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development. BMC Dev Biol. 2008; 8:112.
PMC: 2642797.
DOI: 10.1186/1471-213X-8-112.
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