期刊文献+

1例Ⅱ型糖原累积病的护理 被引量:2

Nursing care of a case with type Ⅱ Pompe's syndrome
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作者 田莹
出处 《护理研究(上旬版)》 2008年第1期90-91,共2页 Chinese Nursing Researsh
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二级参考文献61

  • 1Tsujino S, Huie M, Kanazawa N, et al. Frequent mutations in Japanese patients with acid mahase deficiency. Neuromuscul Disord,2000, 10: 599-603.
  • 2Hermans MM, van Leenen D, Kroos MA, et al. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type Ⅱ. Hum Murat, 2004, 23: 47-56.
  • 3Ausems MG, Lochman P, van Diggelen OP, et al. A diagnostic protocol for adult-onset glycogen storage disease type Ⅱ. Neurology,1999, 52: 851-853.
  • 4Umapathysivam K, Hopwood J J, Meikle PJ. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem, 2001, 47 : 1378-1383.
  • 5Hesselink RP, Wagenmakers AJ, Drost MR, et al. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type Ⅱ. Biochim Biophys Acta, 2003, 1637 : 164-170.
  • 6Haley SM, Fragala MA, Skrinar AM. Pompe disease and physical disability. Dev Med Child Neural, 2003, 45: 618-623.
  • 7Laforet P, Nicolino M, Eymard PB, et al. Juvenile and adult-onset acid maltase deficiency in France: genotypc-phenotype correlation. Neurology, 2000, 55 : 1122-1128.
  • 8Cartier L, Cea JG, Slachevsky A. Myopathy caused by acid maltase deficiency in an adult. Rev Med Chil, 1995, 123: 758-761.
  • 9Kim DG, Jung K, Lee MK, et al. A case of juvenile form Pompe' s disease manifested as chronic alveolar hypoventilation. J Korean Med Sci, 1993, 8: 221-224.
  • 10Moufarrej NA, Bertorini TE. Respiratory. insufficiency in adult-type acid mahase deficiency. South Med J, 1993, 86: 560-567.

共引文献450

同被引文献18

  • 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:15
  • 2史宗道,何瑶.住院患者的口腔护理[J].上海护理,2005,5(2):70-71. 被引量:16
  • 3单岩东,王朝东,张昆南.Ⅱ型糖原累积病的研究进展[J].中国临床神经科学,2007,15(2):203-207. 被引量:14
  • 4Van der Ploeg AT,Reuser AJ.Pompe's disease.Lancet,2008,372:1342-1353.
  • 5Chamolea NA,Niizawa G,Blanco M,et al.Glycogen storage disease type Ⅱ:enzymatic screening in dried blood spots on filter paper.Clin Chim Acts,2004,347:97-102.
  • 6Kishnani PS,Hwu WL,Mandel H,et al.A retrospective,multinational,multicenter study on the natural history of infantile-onset Pompe disease.J Pediatr,2006,148:671-676.
  • 7Chien YH,Chiang SC.Zhang XK,et al.Early detection of Pompe disease by newborn screening is feasible:results from the Taiwan screening program.Pediatrics,2008,122:e39-45.
  • 8Reuser AJ,Kroos MA,Hermans MM,et al.Glycogenosis type Ⅱ (acid maltase deficiency).Muscle Nerve,1995,3:s61-69.
  • 9Fernandez-Hojas R,Huie ML,Navarro C,el al.Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type Ⅱ(Pompe disease).Neuromuscul Disord,2002.12:159-166.
  • 10Zhang H,Kallwass H,Young SP,et al.Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease Genet Med,2006,8:302-306.

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