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4-羟基丁酸尿症2例 被引量:6

Two Cases of 4-Hydroxybutyric Aciduria
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出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2010年第8期616-617,共2页 Journal of Applied Clinical Pediatrics
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参考文献4

  • 1Lee WT, Weng WC, Peng iF, et al. Neuroimaging findings in children with paediatric neurotransmitter diseases[ J]. J Inherit Metab Dis ,2009, 32(3) :361 -370.
  • 2Pearl PL, Gibson KM, Cortez MA, et al. Succinic semialdehyde dehydrogenase deficiency:Lessons from mice and men[ J]. J Inherit Metab Dis, 2009,32 (3) :343 - 352.
  • 3Crutchfield SR,Haas RH,Nyhan WL,et al. Succinic semialdehyde dehydrogenase deficiency: Phenotype evollution in an adolescent patient at 20 - year follow - up [ J]. Dev Med Child Neurol, 2008,50 ( 11 ) : 880 - 881.
  • 4Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semiatdehyde dehydrogenase deficiency [ J]. Neurology, 2003,60 ( 5 ) : 1413 - 1417.

同被引文献54

  • 1Shinka T,Inoue Y,Ohse M, et al. Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehyrogenase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci, 2002,776: 57-63.
  • 2Trettel F, Malaspina P, Jodice C, et al. Human succinic semialdehyde dehydrogenase : molecular cloning and chromosomal localization. Adv Exp Med Biol, 1997,414: 253- 260.
  • 3Jakobs C, Bojasch M, Monch E, et al. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta, 1981, 111:169-178.
  • 4Pearl PL,Gibson KM, Cortez MA, et al. Succinic semialdehyde dehydrogenase deficiency: lesseons from mice and men. J Inherit Metab Dis, 2009,32: 343-352.
  • 5Akaboshi S, Hogema BM, Novelletto A, et al. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDHSAI) gene and functional analysis of 27 novel disease- causing mutations in patients with SSADH deficiency. Hum Mutat, 2003,22:442-450.
  • 6Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology, 2003,60 : 1413-1417.
  • 7Knerr I, Gibson KM, Murdoch G, et al. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol, 2010,42 ,. 255-258.
  • 8Gibson KM, Lee CF, Chambliss KL, et al. 4-Hydroxybutyric aciduria., application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta, 1991,196.. 219- 221.
  • 9Blasi P, Boyl PP, Ledda M, et al. Structure of human suceinic semialdehyde dehydrogenase gene., identifycation of promoter region and alternatively processed isoforms. Mol Genet Metab, 2002,76: 348-362.
  • 10Kim YG, Lee S, Kwon OS, et al. Redox-switch modulation of human SSADH by dynamic catalytic loop. EMBO J, 2009,28: 959-968.

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