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戈谢病的临床研究进展 被引量：8

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摘要 戈谢病（GD）是溶酶体贮积症病（lysosomal storage disorder，LSD）中最常见的一种，为常染色体隐性遗传病。该病主要因为β-葡糖脑苷脂酶（β-glucocerebrosidase，GC）缺乏，致使葡糖脑苷脂（glucocerebroside）不能被水解而聚积在巨噬细胞溶酶体中，导致细胞失去原有的功能而产生一系列症状。
作者 张永红
机构地区 首都医科大学附属北京儿童医院
出处 《中华医学杂志》 CAS CSCD 北大核心 2009年第40期2879-2880,共2页 National Medical Journal of China
关键词 戈谢病 临床研究 常染色体隐性遗传病 葡糖脑苷脂酶 细胞溶酶体 溶酶体贮积症
分类号 R686 [医药卫生—骨科学]
  • 相关文献

参考文献12

  • 1Beutler E,Grabowski GA.Glueosylceramide lipidosis-Gaueher disease.Seriver CR,Beaudet al.,Sly WS,Valle D,etc.The metabolic and molecular bases of inherited diseases.8th edn.New York:McGraw-Hill,2001:3635-3668.
  • 2Ginzburg L,Kacher Y,Futerman AH.The pathogenesis of glycosphingolipid storage disorders.Semin Cell Dev Biol,2004,15:417-431.
  • 3Futerman AH.Cellular pathology in Gaucher disease.In:Futerman AH,Zimran A,editors.Gaucher disease.LLC ed.Boca Raton:Taylor and Francis Group,2007:97-108.
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  • 6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
  • 7Grabowski GA.Recent clinical progress in Gaucher disease.Curr Opin Pediatr,2005,17:519-524.
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二级参考文献14

  • 1胡亚美 江载芳 陆华 申昆玲 左启华 李同 等.实用儿科学(第7版)[M].北京:人民卫生出版社,2002.698-705.
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共引文献34

同被引文献80

  • 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
  • 2Weinreb NJ, Andersson HC, Banikazemi M, et al. Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med, 2008,168:326-327.
  • 3Pastores GM, Hughes DA. Gaueher Disease. In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. GeneReviews. Seattle ( WA ) : University of Washington, Seattle; 1993-2000 Jul 27 [ updated 2008 Mar 13 ]. http://www, ncbi. nlm. nih. gov/books/ NBK1269.
  • 4Andersson HC, Charrow J, Kaplan P, et al. Individualization of long term enzyme replacement therapy for Gaucher disease. Genet Med ,2005,7:105-110.
  • 5Weinreb NJ,Barranger JA, Charrow J, et al. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. Am J Hematol, 2005,80:223-229.
  • 6Cox TM. Eliglustat tartrate, an orally active glucocerebmside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Curt Opin Investig Drugs, 2010,11:1169-1181.
  • 7Suzuki Y, Ogawa S, Sakakibara Y. Chaperone therapy for neuronopathic lysosomal diseases : competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities. Perspect Mediein Chem,2009 ,26 :7-19.
  • 8Beck M. Therapy for lysosomal storage disorders. IUBMB Life, 2010,62:33-40.
  • 9Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med,1998 ,158 :1754-1760.
  • 10Weinreb N J, Aggio MC, Andersson HC, et al. Gaucher Disease Type 1 :revised recommendations on evaluation and monitoring for adult patients. Semin Hematol,2004, 41 : 15-22.

引证文献8

二级引证文献63

中华医学杂志
2009年 第40期

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