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成人型戈谢病2例 被引量:6

成人型戈谢病2例
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出处 《中国实用外科杂志》 CSCD 北大核心 2008年第7期599-600,共2页 Chinese Journal of Practical Surgery
关键词 戈谢病 溶酶体贮积病 Gaucher disease,lysosomal storage disease
  • 相关文献

参考文献11

  • 1Stirnemann J, Caubel I, Kettaneh A, et al. Epidemiologic, clinical,biological and therapeutic aspects of Gaucher disease[ J]. Presse Med ,2003 ,32 ( 11 ) : 503 - 511.
  • 2Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management [ J ]. Br J Haematol, 2005,129 (2) :175 - 155.
  • 3Mankin H J, Rosenthal DI, Xavier R. Gaucher disease. New approaches to an ancient disease[ J]. J Bone Joint Surg Am,2001, 83 - A(5) :748 -762.
  • 4Sidransky E, Tayebi N, Ginns EJ. Diagnosing Gaucher disease [ J ]. Clin Pediatr, 1995,34:365 - 370.
  • 5Weinreb N J, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment : a report from the Gaueher Registry[J]. Am J Med,2002,113(2) :112 - 119.
  • 6Poll LW, Maas M, Terk MR, et al. Response of Gaucher bone disease to enzyme replacement therapy [ J ]. Br J Radiol, 2002,75 (suppl) 1:25 - 36.
  • 7Yen CC, Chiou TJ , Lin CY, et al. Allogeneic bone marrow transplantation for Gaucher isease-a case report[ J]. Zhonghua Yi Xue Za Zhi,1997,59(6) :372 -376.
  • 8肖文慧,臧晏,施惠平.酶制剂Cerezyme治疗高雪氏病效果观察[J].中国小儿血液,2004,9(5):197-200. 被引量:3
  • 9Goldblatt J, Szer J, Fletcher JM, et al. Enzyme replacement therapy for Gaucher disease in a ustralia[J]. Intern Med J ,2005,35 (3):156-161.
  • 10Pastores GM, Barnett NL, Kolodny EH. An open-ladel, noncomparative study of miglustat in type Ⅰ Gaucher disease:efficacy and to lerability over 24 month s of treatment [ J ]. Clin Ther, 2005,27(8) : 1215 - 1227.

二级参考文献10

  • 1Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. AmJ Med, 2002 Aug 1;113(2):112.
  • 2Grabowski GA, Barton NW, pastores G, et al. Enzyme therapy in type Ⅰ Gaucher disease: Comparative efficacy of mannoseterminated, glucocerebrosidase from natural and recombinantsources. Annals of Internal Medicine, 1995; 122:33.
  • 3Toth J, Szues FZ, Benko K, et al. Enzyme replacement therapy in Gaucher disease: monitoring visceral and bone changes with MRI. Orv Hetib, 2003 Apr 20; 144(16):749.
  • 4Grabowski GA, Leslie N, Wenstrup RJ, Enzyme therapy for Gaucher disease: the first 5 years,Blood Rev;1998;12:115.
  • 5Rosenthal DI, Doppelt SH, Mankin HS, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage- targeted glucocerebrosidase. Pediatrics, 1995;96:629.
  • 6Brady RD,Kanfer JN,Shapiro D. Metabolism of glucocerebrosidase evidence of enzymatic deficiency in Gaucher'S disease. Biochem Biophys Res com, 1965; 18: 201.
  • 7Beutler E, saverA, Garwerp, et al. Enzyme replacement therapy in Gaucher disease. Blood, 1990; 26:177a.
  • 8Beutler E. Gaucher's disease. N. Engl. J med, 1991;325:1354.
  • 9Poll LW, Maas M, Terk MR, etal. Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol, 2002; 75Suppl 1: A25.
  • 10张为民,施惠平,郭玉凤,罗会元,孙念怙.高雪氏病的诊断及产前诊断[J].中华医学遗传学杂志,1992,9(1):2-3. 被引量:6

共引文献2

同被引文献28

  • 1段彦龙,张永红,臧晏,施惠平,张为民,胡亚美.酶替代治疗戈谢病72例[J].中华儿科杂志,2006,44(9):653-656. 被引量:35
  • 2郭晓红.慢性型戈谢病1例[J].疑难病杂志,2007,6(3):163-163. 被引量:6
  • 3Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management[J]. Br J Haematol, 2005; 129(2): 178-188.
  • 4Stirnemann J, Caubel I, Kettaneh A, et al. Epidemiologic, clinical, biological and therapeutic aspects of Gaucher disease[J]. Presse Med, 2003; 32(11): 503-511.
  • 5Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1 028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry [J]. Am J Med, 2002; 113(2):112 -119.
  • 6Goldblatt J, SzerJ, FletcherJM, etal. Enzyme replacement therapy for Gaucher disease in Australia[J].Intern Med J, 2005; 35(3): 156-161.
  • 7Roze B, Lambert Y, Potard M, et al. Voluminous nodular splenomegaly in Gaucher disease: A case report [J].Rev Med Interne, 2009; 30(10): 904-906.
  • 8Pastores GM, Barnett NL, Kolodny EH. An open-ladel noncomparative study of miglustat in type Ⅰ Gaucher disease efficacy and tolerability over 24 months of treatment [J].Clin Ther, 2005; 27(8): 1215-1227.
  • 9Jmoudiak M, Futerman AH. Gaueher disease:pathological mechanisms and modem management. Br J Haematol,2005,129(2) :178-188.
  • 10Weinreh NJ, Charrow J, Andersson HC, et al. Effectiveness of en- zyme replacement therapy in 1028 patients with type 1 Gaucher dis- ease after 2 to 5 years of treatment: a report from the Gaucher Reg- istry. Am J Med,2002,113(2) :112-119.

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