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以脊髓损害起病的生物素酶缺乏症1例分析 被引量:4

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出处 《中国康复医学杂志》 CAS CSCD 2003年第4期244-245,共2页 Chinese Journal of Rehabilitation Medicine
基金 卫生部临床学科重点项目(2001-2003)
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参考文献8

  • 1罗小平.有机酸代谢障碍[A].左启华.小儿神经系统疾病:第2版[C].北京:人民卫生出版社,2002.472-500.
  • 2William LN,Pinar TO.Multiple carboxylase detlciency-Biotinidase deficiency[M]. In: Arias of metabolic diseases. Chapman & Hall London, 1998.245-251.
  • 3Suormala T, Wick H, Bonjour JP, et al. Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency[J].Eur J Pediatr, 1985, 144: 21-26.
  • 4Wastell HL,Bartlett K,Dale G,et al. Biotinidase deficiency: a survey of 10 eases[J]. Arch Dis Child, 1988, 63: 1244-1249.
  • 5Suormala TM, Baumgartner ER, Wick H, et al.Comparison of patients with complete and partial biotinidase deficiency: biochemical studies[J]. J Inherit Metab Dis, 1990, 13: 76-92.
  • 6Wolf B,Heard GS,Weissbecker KA,et al. Biotinidase deficiency:initial clinical features and rapid diagnosis[J].Ann Neurol, 1985,18: 614-617.
  • 7Wolf B, Heard GS, Jefferson LG, et al. Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program[J]. N Engl J Med, 1985, 313: 16-1.
  • 8Pomponio RJ, Hymes J, Reynolds TR,et al.Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children:molecular,biochemical,and clinical analysis. Pediatr Res,1997,42:840-848.

共引文献7

同被引文献36

  • 1韩连书,高晓岚,叶军,邱文娟,顾学范.串联质谱技术在有机酸血症筛查中的应用研究[J].中华儿科杂志,2005,43(5):325-330. 被引量:62
  • 2邹丽萍,王旭.疑难病研究—生物素酶缺乏症[J].中国当代儿科杂志,2005,7(5):435-438. 被引量:10
  • 3宋金青,杨艳玲,孙芳,张月华,包新华,钱宁,王兰凤,秦炯,吴希如.气相色谱-质谱联用分析在有机酸尿症筛查与诊断中的应用[J].中国医刊,2006,41(2):38-40. 被引量:38
  • 4杨艳玲.生物素与生物素酶缺乏症[J].临床儿科杂志,2006,24(12):941-943. 被引量:19
  • 5罗小平.有机酸代谢障碍[A].左启华.小儿神经系统疾病:第2版[C].北京:人民卫生出版社,2002.472-500.
  • 6山口昭弘.ビオチニダ-ゼ欠损症.见:松本勇,坂本正一.临床化学诊断学.东京:ソフトサィェンス社,1995:124—126.
  • 7Wolf B. Disorders of biotin metabolism. In: Scriver CR,Beaudet AL, Sly WS, et al,eds. The metabolic and molecular basis of inherited disease. 8th ed. New York:McGraw-Hill,2001 : 3935-3962.
  • 8Wolf B, Grier RE, Allen R J, et al. Biotinidase deficiency:the enzymatic defect in late-onset multiple carboxylase deficiency.Clin Chim Acta, 1983,131 (3) : 273-281.
  • 9Nyhan WL, Ozand PT. Atlas of metabolic disease. Spain: Chapman & Hall Medical, 1998:33-40.
  • 10Dabbagh O, Brismar J, Gascon GG, et al. The clinical spectrum of biotin- treatable encephalopathies in Saudi Arabia.Brain Dev, 1994,16(Suppl) :72-80.

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