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Volumn 32, Issue SUPPL. 1, 2009, Pages

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYBUTYRIC ACID; 4-HYDROXYBUTYRIC ACID; ALDH5A1 PROTEIN, HUMAN; HEXANOIC ACID DERIVATIVE; HYDROXYBUTYRIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

EID: 84880981906     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1154-4     Document Type: Article
Times cited : (7)

References (29)
  • 1
    • 0346993682 scopus 로고    scopus 로고
    • Mutational Spectrum of the Succinate Semialdehyde Dehydrogenase (ALDH5A1) Gene and Functional Analysis of 27 Novel Disease-Causing Mutations in Patients with SSADH Deficiency
    • DOI 10.1002/humu.10288
    • Akaboshi S, Hogema BM, Novelletto A, et al (2003) Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat 22: 442-450. doi:10.1002/humu.10288 (Pubitemid 38009947)
    • (2003) Human Mutation , vol.22 , Issue.6 , pp. 442-450
    • Akaboshi, S.1    Hogema, B.M.2    Novelletto, A.3    Malaspina, P.4    Salomons, G.S.5    Maropoulos, G.D.6    Jakobs, C.7    Grompe, M.8    Gibson, K.M.9
  • 2
    • 18644381319 scopus 로고    scopus 로고
    • Structure of human succinic semialdehyde dehydrogenase gene: Identification of promoter region and alternatively processed isoforms
    • doi:10.1016/S1096-7192(02)00105-1
    • 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
    • (2002) Mol Genet Metab , vol.76 , pp. 348-362
    • Blasi, P.1    Boyl, P.P.2    Ledda, M.3
  • 3
    • 34248564911 scopus 로고    scopus 로고
    • Sweep visual evoked potential testing as a predictor of recognition acuity in albinism
    • DOI 10.1001/archopht.125.5.628
    • 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 (Pubitemid 46762723)
    • (2007) Archives of Ophthalmology , vol.125 , Issue.5 , pp. 628-633
    • Bradfield, Y.S.1    France, T.D.2    Verhoeve, J.3    Gangnon, R.E.4
  • 4
    • 0001117141 scopus 로고
    • 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
    • DOI 10.1007/BF01799979
    • 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 (Pubitemid 18009388)
    • (1987) Journal of Inherited Metabolic Disease , vol.10 , Issue.4 , pp. 367-375
    • Brown, G.K.1    Cromby, C.H.2    Manning, N.J.3    Pollitt, R.J.4
  • 7
    • 0022607641 scopus 로고
    • Sensory evoked potentials in Wilson-s disease
    • Chu NS (1986) Sensory evoked potentials in Wilson-s disease. Brain 109(3): 491-507.
    • (1986) Brain , vol.109 , Issue.3 , pp. 491-507
    • Chu, N.S.1
  • 8
    • 84897582712 scopus 로고
    • Contiguous and serial recordings of BAEPs and VEPs in premature infants who did and did not sustain hemorrhage and/or periventricular leukomalacia
    • Gallai V, ed. New York: Excerpta Medica
    • Crutchfield SR, Harding GFA, Durbin GM (1986) Contiguous and serial recordings of BAEPs and VEPs in premature infants who did and did not sustain hemorrhage and/or periventricular leukomalacia. In: Gallai V, ed. Maturation of the CNS and Evoked Potentials. New York: Excerpta Medica.
    • (1986) Maturation of the CNS and Evoked Potentials
    • Crutchfield, S.R.1    Harding, G.F.A.2    Durbin, G.M.3
  • 9
    • 54249107239 scopus 로고    scopus 로고
    • Succinic semialdehyde dehydrogenase deficiency: Phenotype evolution in an adolescent patient at 20-year follow-up
    • Crutchfield SR, Haas RH, Nyhan WL, Gibson KM (2008) Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up. Dev Med Child Neurol 50: 880-881.
    • (2008) Dev Med Child Neurol , vol.50 , pp. 880-881
    • Crutchfield, S.R.1    Haas, R.H.2    Nyhan, W.L.3    Gibson, K.M.4
  • 10
    • 34247113694 scopus 로고    scopus 로고
    • A study of clinical, MRI and multimodality evoked potentials in neurologic Wilson disease
    • doi:10.1111/j.1468-1331.2006.01676.x
    • Das M, Misra UK, Kalita J (2007) A study of clinical, MRI and multimodality evoked potentials in neurologic Wilson disease. Eur J Neurol 14: 498-504. doi:10.1111/j.1468-1331.2006.01676.x
    • (2007) Eur J Neurol , vol.14 , pp. 498-504
    • Das, M.1    Misra, U.K.2    Kalita, J.3
  • 11
    • 33645314048 scopus 로고    scopus 로고
    • GABA(A), GABA(C) and glycine receptor-mediated inhibition differentially affects light-evoked signaling from mouse retinal rod bipolar cells
    • Eggers ED, Lukasiewicz PD (2006) GABA(A), GABA(C) and glycine receptor-mediated inhibition differentially affects light-evoked signaling from mouse retinal rod bipolar cells. J Physiol 572: 215-225.
    • (2006) J Physiol , vol.572 , pp. 215-225
    • Eggers, E.D.1    Lukasiewicz, P.D.2
  • 12
    • 0023920123 scopus 로고
    • 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions
    • doi:10.1007/BF00441983
    • Gibson KM, Hoffmann G, Nyhan WL, et al (1988) 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions. Eur J Pediatr 147: 529-531. doi:10.1007/BF00441983
    • (1988) Eur J Pediatr , vol.147 , pp. 529-531
    • Gibson, K.M.1    Hoffmann, G.2    Nyhan, W.L.3
  • 13
    • 0142072084 scopus 로고    scopus 로고
    • Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria)
    • DOI 10.1016/S0006-3223(03)00113-6
    • Gibson KM, Gupta M, Pearl PL, et al (2003) Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry 54: 763-768. doi:10.1016/S0006-3223(03)00113-6 (Pubitemid 37281394)
    • (2003) Biological Psychiatry , vol.54 , Issue.7 , pp. 763-768
    • Gibson, K.M.1    Gupta, M.2    Pearl, P.L.3    Tuchman, M.4    Vezina, L.G.5    Snead III, O.C.6    Smit, L.M.E.7    Jakobs, C.8
  • 15
    • 0033761344 scopus 로고    scopus 로고
    • Electrooculography, electroretinography, visual evoked potentials, and multifocal electroretinography in patients with vigabatrin-attributed visual field constriction
    • doi:10.1111/j.1528-1157.2000.tb00117.x
    • Harding GF, Wild JM, Robertson KA, et al (2000) Electrooculography, electroretinography, visual evoked potentials, and multifocal electroretinography in patients with vigabatrin-attributed visual field constriction. Epilepsia 41: 1420-1431. doi:10.1111/j.1528-1157.2000.tb00117.x
    • (2000) Epilepsia , vol.41 , pp. 1420-1431
    • Harding, G.F.1    Wild, J.M.2    Robertson, K.A.3
  • 16
    • 37549032759 scopus 로고    scopus 로고
    • Enantioselective actions of 4-amino-3-hydroxybutanoic acid and (3-amino-2-hydroxypropyl)methylphosphinic acid at recombinant GABA(C) receptors
    • doi:10.1016/j.bmcl.2007.10.019
    • Hinton T, Chebib M, Johnston GA (2008) Enantioselective actions of 4-amino-3-hydroxybutanoic acid and (3-amino-2-hydroxypropyl)methylphosphinic acid at recombinant GABA(C) receptors. Bioorg Med Chem Lett 18: 402-404. doi:10.1016/j.bmcl.2007.10.019
    • (2008) Bioorg Med Chem Lett , vol.18 , pp. 402-404
    • Hinton, T.1    Chebib, M.2    Johnston, G.A.3
  • 17
    • 34247275126 scopus 로고    scopus 로고
    • Perceptual relevance of abnormal visual field representations: Static visual field perimetry in human albinism
    • DOI 10.1136/bjo.2006.094854
    • Hoffmann MB, Seufert PS, Schmidtborn LC (2007) Perceptual relevance of abnormal visual field representations: static visual field perimetry in human albinism. Br J Ophthalmol 91: 509-513. doi:10.1136/bjo.2006.094854 (Pubitemid 46623687)
    • (2007) British Journal of Ophthalmology , vol.91 , Issue.4 , pp. 509-513
    • Hoffmann, M.B.1    Seufert, P.S.2    Schmidtborn, L.C.3
  • 18
    • 0020019707 scopus 로고
    • Evaluation of cerebral function in newborn infants with fetal growth retardation
    • Hrbek A, Iversen K, Olsson T (1982) Evaluation of cerebral function in newborn infants with fetal growth retardation. Adv Neurol 32: 89-95.
    • (1982) Adv Neurol , vol.32 , pp. 89-95
    • Hrbek, A.1    Iversen, K.2    Olsson, T.3
  • 19
    • 33748650796 scopus 로고    scopus 로고
    • Neurophysiologic studies in Krabbe disease
    • Husain AM (2006) Neurophysiologic studies in Krabbe disease. Suppl Clin Neurophysiol 59: 289-298.
    • (2006) Suppl Clin Neurophysiol , vol.59 , pp. 289-298
    • Husain, A.M.1
  • 20
    • 0022507002 scopus 로고
    • Neurotransmitters in the cerebral cortex
    • Jones EG (1986) Neurotransmitters in the cerebral cortex. J Neurosurg 65: 135-153.
    • (1986) J Neurosurg , vol.65 , pp. 135-153
    • Jones, E.G.1
  • 22
    • 0031595433 scopus 로고    scopus 로고
    • Different combinations of GABA(A) and GABA(C) receptors confer distinct temporal properties to retinal synaptic responses
    • Lukasiewicz PD, Shields CR (1998) Different combinations of GABAA and GABAC receptors confer distinct temporal properties to retinal synaptic responses. J Neurophysiol 79: 3157-3167. (Pubitemid 28317042)
    • (1998) Journal of Neurophysiology , vol.79 , Issue.6 , pp. 3157-3167
    • Lukasiewicz, P.D.1    Shields, C.R.2
  • 23
    • 0025366012 scopus 로고
    • Visual and somatosensory evoked potentials in hereditary motor-sensory neuropathies
    • Nevsímalová S, Ponca I, Fiksa J (1990) Visual and somatosensory evoked potentials in hereditary motor-sensory neuropathies. Schweiz Arch Neurol Psychiatr 141(3): 217-228. (Pubitemid 20232038)
    • (1990) Schweizer Archiv fur Neurologie und Psychiatrie , vol.141 , Issue.3 , pp. 217-228
    • Nevsimalova, S.1    Ponca, I.2    Fiksa, J.3
  • 24
    • 0042868561 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy of neurotransmitters in human brain
    • DOI 10.1002/ana.10697
    • Novotny EJ, Jr., Fulbright RK, Pearl PL, Gibson KM, Rothman DL (2003) Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol 54 Supplement 6: S25-31. doi:10.1002/ana.10697 (Pubitemid 36903851)
    • (2003) Annals of Neurology , vol.54 , Issue.SUPPL. 6
    • Novotny Jr., E.J.1    Fulbright, R.K.2    Pearl, P.L.3    Gibson, K.M.4    Rothman, D.L.5
  • 27
    • 0016592935 scopus 로고
    • Comparative symptomatological and evoked potential studies with d -amphetamine, thioridazine, and placebo in hyperkinetic children
    • Saletu B, Saletu M, Simeon J, Viamontes G, Itil TM (1975) Comparative symptomatological and evoked potential studies with d -amphetamine, thioridazine, and placebo in hyperkinetic children. Biol Psychiatry 10 : 253-275.
    • (1975) Biol Psychiatry , vol.10 , pp. 253-275
    • Saletu, B.1    Saletu, M.2    Simeon, J.3    Viamontes, G.4    Itil, T.M.5
  • 28
    • 0026439146 scopus 로고
    • Effects of high-dose gamma-vinyl GABA (vigabatrin) administration on visual and somatosensory evoked potentials in dogs
    • doi:10.1111/j.1528-1157.1992.tb05896.x
    • Schroeder CE, Gibson JP, Yarrington J, Heydorn WE, Sussman NM, Arezzo JC (1992) Effects of high-dose gamma-vinyl GABA (vigabatrin) administration on visual and somatosensory evoked potentials in dogs. Epilepsia 33Supplement 5: S13-25. doi:10.1111/j.1528-1157.1992.tb05896.x
    • (1992) Epilepsia , vol.33 , Issue.SUPPL. 5
    • Schroeder, C.E.1    Gibson, J.P.2    Yarrington, J.3    Heydorn, W.E.4    Sussman, N.M.5    Arezzo, J.C.6


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