戈谢病

紧急程度中等
-中度严重
参考文献
  1. Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017; 22:65.
  2. Locatelli Hoops S, Kolter T, Sandhoff K. Saposin C and other sphingolipid activator proteins. In: Gaucher disease, Futerman AH, Zimran A (Eds), CRC Press, Boca Raton 2006. p.67.
  3. Tylki-Szymańska A, Vellodi A, El-Beshlawy A, et al. Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis 2010; 33:339.
  4. Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab 2004; 83:6.
  5. Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000; 66:1777.
作者
医生 Oscar Garcia-Esquirol
版权
© TeckelMedical 2026

症状

    骨骼疼痛


    增长缓慢


    局部腹痛


    皮肤表面血肿


    腹部变大

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