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代谢性肌病的诊断与鉴别诊断 被引量:2

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摘要 代谢性肌病是一组常被临床误诊的骨骼肌疾病,需要进行病理学和酶学检查加以确诊。许多遗传性或获得性骨骼肌疾病都与代谢异常有关。遗传性蛋白质代谢异常可以是蛋白质缺乏导致的肌营养不良症,也可以是蛋白质异常增多导致的蛋白聚集性肌病。代谢性肌病是一组以骨骼肌糖原和脂肪代谢异常为主的疾病。与线粒体基因以及核基因异常有关,
作者 袁云
出处 《中国现代神经疾病杂志》 CAS 2007年第2期116-119,共4页 Chinese Journal of Contemporary Neurology and Neurosurgery
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参考文献22

  • 1[1]Goebel HH,Muller HD.Protein aggregate myopathies.Semin Pediatr Neurol,2006,13:96-103.
  • 2[2]Darras BT,Friedman NR.Metabolic myopathies:a clinical approach;part Ⅰ.Pediatr Neurol,2000,22:87-97.
  • 3[3]Darras BT,Friedman NR.Metabolic myopathies:a clinical approach;part Ⅱ.Pediatr Neurol,2000,22:171-181.
  • 4[4]Eymard B,Laforet P.Metabolic myopathies in adulthood:features and clues for diagnosis.Rev Med Interne,2001,22 Suppl 3:328-337.
  • 5[5]Wortmann RL,DiMauro S.Differentiating idiopathic inflammatory myopathies from metabolic myopathies.Rheum Dis Clin North Am,2002,28:759-778.
  • 6袁云.骨骼肌疾病的临床病理诊断[J].中华神经科杂志,2006,39(8):505-507. 被引量:12
  • 7[7]Vladutiu GD.Laboratory diagnosis of metabolic myopathies.Muscle Nerve,2002,25:649-663.
  • 8[8]Dimauro S.Mitochondrial myopathies.Curr Opin Rheumatol,2006,18:636-641.
  • 9[9]Morava E,van den Heuvel L,Hol F,et al.Mitochondrial disease criteria:diagnostic applications in children.Neurology,2006,67:1823-1826.
  • 10吴晔,赵晖,姜玉武,包新华,张月华,秦炯,戚豫,袁云,吴希如.儿童MELAS综合征临床及分子遗传学特点分析[J].中国实用儿科杂志,2004,19(7):403-405. 被引量:23

二级参考文献44

  • 1袁云.分子病理学对遗传性肌病诊断的影响[J].中华神经科杂志,2005,38(11):665-668. 被引量:10
  • 2Hirano M,Ricci E,Koenigsberger MR,et al.Melas:an original case and clinical criteria for diagnosis.Neuromuscul Disord,1992,2(2):125-135
  • 3Chinnery PF,Howell N,Andrews RM,et al.Clinical mitochondrial genetics.J Med Genet,1999,36(6):425-436
  • 4David RB.Child and adolescent neurology.St.Louis:Mosby,1998.347-348
  • 5Parker JC.Commentary:human mitochondrial cytopathies.Ann Clin Lab Sci,2000,30(3):159-162
  • 6Thorburn DR,Dahl HHM.Mitochondrial disorder:genetics,counseling,prenatal diagnosis and reproductive options.Am J Med Gene,2001,106(2):102-114
  • 7Przyrembel H,Wendel U,Becker K,et al.Glutaric aciduria type Ⅱ: report on a previously undescribed metabolic disorder.Clin Chim Acta,1976,66: 227-239.
  • 8Nyhan WL,Ozand PT,eds.Atlas of metabolic diseases.London: Chapman & Hall Medical,1998.245-251.
  • 9Kimura M,Yoon HR,Wasant P,et al.A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spots.Clin Chim Acta,2002,316: 117-121.
  • 10Yamaguchi S,Orii T,Suzuki Y,et al.Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type Ⅱ.Pediat Res,1991,29: 60-63.

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