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Volumn 42, Issue 4, 2010, Pages 255-258

Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

EID: 77949475279     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.11.011     Document Type: Article
Times cited : (27)

References (12)
  • 1
    • 0142072084 scopus 로고    scopus 로고
    • Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (γ-hydroxybutyric aciduria)
    • Gibson K.M., Gupta M., Pearl P.L., et al. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (γ-hydroxybutyric aciduria). Biol Psychiatry 54 (2003) 763-768
    • (2003) Biol Psychiatry , vol.54 , pp. 763-768
    • Gibson, K.M.1    Gupta, M.2    Pearl, P.L.3
  • 3
    • 0024584345 scopus 로고
    • Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling
    • Gibson K.M., Goodman S.I., Frerman F.E., and Glasgow A.M. Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling. J Pediatr 114 (1989) 607-610
    • (1989) J Pediatr , vol.114 , pp. 607-610
    • Gibson, K.M.1    Goodman, S.I.2    Frerman, F.E.3    Glasgow, A.M.4
  • 4
    • 0038221058 scopus 로고    scopus 로고
    • Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
    • Pearl P.L., Gibson K.M., Acosta M.T., et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 60 (2003) 1413-1417
    • (2003) Neurology , vol.60 , pp. 1413-1417
    • Pearl, P.L.1    Gibson, K.M.2    Acosta, M.T.3
  • 5
    • 0025971017 scopus 로고
    • Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts
    • Gibson K.M., Lee C.F., Chambliss K.L., et al. Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta 196 (1991) 219-221
    • (1991) Clin Chim Acta , vol.196 , pp. 219-221
    • Gibson, K.M.1    Lee, C.F.2    Chambliss, K.L.3
  • 6
    • 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
    • Akaboshi S., Hogema B.M., Novelletto A., et al. 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 6 (2003) 442-450
    • (2003) Hum Mutat , vol.6 , pp. 442-450
    • Akaboshi, S.1    Hogema, B.M.2    Novelletto, A.3
  • 7
    • 0033897735 scopus 로고    scopus 로고
    • Neurodegeneration with brain iron accumulation, type 1 is characterized by α-, β-, and γ-synuclein neuropathology
    • Galvin J.E., Giasson B., Hurtig H.I., Lee V.M., and Trojanowski J.Q. Neurodegeneration with brain iron accumulation, type 1 is characterized by α-, β-, and γ-synuclein neuropathology. Am J Pathol 157 (2000) 361-368
    • (2000) Am J Pathol , vol.157 , pp. 361-368
    • Galvin, J.E.1    Giasson, B.2    Hurtig, H.I.3    Lee, V.M.4    Trojanowski, J.Q.5
  • 8
    • 25144506627 scopus 로고    scopus 로고
    • Basal ganglia calcification in mitochondrial disorders
    • Finsterer J., and Kopsa W. Basal ganglia calcification in mitochondrial disorders. Metab Brain Dis 20 (2005) 219-226
    • (2005) Metab Brain Dis , vol.20 , pp. 219-226
    • Finsterer, J.1    Kopsa, W.2
  • 10
    • 0031469059 scopus 로고    scopus 로고
    • Sudden unexpected death in epilepsy: terminology and definitions
    • Nashef L. Sudden unexpected death in epilepsy: terminology and definitions. Epilepsia 38 Suppl. 11 (1997) S6-S8
    • (1997) Epilepsia , vol.38 , Issue.SUPPL. 11
    • Nashef, L.1
  • 12
    • 1342268042 scopus 로고    scopus 로고
    • Comparison of heart mass in seizure patients dying of sudden unexplained death in epilepsy to sudden death due to some other cause
    • Davis G.G., and McGwin Jr. G. Comparison of heart mass in seizure patients dying of sudden unexplained death in epilepsy to sudden death due to some other cause. Am J Forensic Med Pathol 25 (2004) 23-28
    • (2004) Am J Forensic Med Pathol , vol.25 , pp. 23-28
    • Davis, G.G.1    McGwin Jr., G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.