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疑难病例析评 第55例 四肢无力—高乳酸血症—脑梗死 被引量:3

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出处 《中华医学杂志》 CAS CSCD 北大核心 2004年第10期866-867,共2页 National Medical Journal of China
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  • 1Prevett M, Enevoldson TP, Duncan JS. Adult onset acid maltase deficiency associated with epilepsy and dementia. J Neurol Neurosurg Psychiatry, 1992,55:509.
  • 2Danon MJ, Oh SJ, DiMauro SD, et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology, 1981,31:51-57.
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  • 4Matsuoka Y, Senda Y, Hirayama M, et al. Late-onset acid maltase deficiency associated with intracranial aneurysm. J Neurol, 1988,235:371-373.

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  • 1陈琳,郭玉璞,任海涛,赵燕环,关鸿志,管宇宙,彭斌,刘大为.少年起病的Ⅱ型糖原累积病五例临床病理研究[J].中华神经科杂志,2005,38(1):51-54. 被引量:16
  • 2傅立军,窦薇,周爱卿,黄美蓉,杨健萍,李奋.糖原累积病Ⅱ型的临床分析和基因学检测[J].临床儿科杂志,2006,24(12):962-965. 被引量:11
  • 3Sahin M, duPlessis AJ. Hydrocephalus associated with glycogen storage disease type Ⅱ(Pompe's disease ). Pediatr Neurol, 1999,21:674-676.
  • 4Kretzschmar HA, Wagner H, Hubner G, et al. Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency. J Neurol Sci, 1990,98 : 169-183.
  • 5Matsuoka Y, Senda Y, Hirayama M, et al. Late-onset acid mahase deficiency associated with intracranial aneurysm. Neurology, 1988,235:371-373.
  • 6Araoz C, Sun CN, Shenefelt R, et al. Glycogenosis type Ⅱ( Pompe ' s disease ) : ultrastructure of peripheral nerves. Neurology, 1974, 24:739-742.
  • 7Kishnani PS,Corzo D,Nicolino M,et al.Recombinant human acid[alpha] -glucosidase:major clinical benefits in infantile-onset Pompe disease.Neurology,2007,68:99-109.
  • 8van der Ploeg AT,Reuser AJ.Pompe's disease.Lancet,2008,372:1343-1353.
  • 9Kishnani PS,Steiner RD,Bali D,et al.Pompe disease diagnosis and management guideline.Gent Med,2006,8:267-288.
  • 10Katzin LW,Amato AA.Pompe disease:a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy.J Clin Neuromuscul Dis,2008,9:421-431.

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