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成人高雪病1例 被引量:2

Adult Gaucher's disease: One case report
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作者 宋金亮 张斌
机构地区 解放军
出处 《第四军医大学学报》 北大核心 2005年第19期1789-1789,共1页 Journal of the Fourth Military Medical University
关键词 高雪病 脾肿大 CT
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  • 1Patrick AD. A deficiency of glucocerebrosidase in Gaucher's disease. Biochem J, 1965,97 , 17-18.
  • 2Brady RO, Kanfer JN, Shapiro D. Metablism of glucocerebrosides. I. Evidence of an enzymatic deficiency in Gaucher's disease. Biocham Biophys Res Commun, 1965, 18 :221-225.
  • 3Ohashi T, Chang MH, Weiler S, et al. Characterization of human glucocerebrosidase from different mutant alleles. J Boil Chem,1991, 266: 3661-3667.
  • 4Fan JQ, Ishii S, Asano N, Suzuki Y, et al. Accelerated transport and maturation of lysosolnal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med, 1999,5 : 112-115.
  • 5Grabowski GA, Osieck-Newman K, Dinur T, et al. Human acid β-glucosidase. Use of CBE derivations to investigate the catalytically active normal and Gaucher's disease enzymes. J Boil Chem, 1986,261: 8263-8269.
  • 6Dale MP, Ensley HE, Kern K, et al. Reversible inhibitor of β-glucosidase. Biochemistry, 1985, 24 : 3530-3539.
  • 7Ida H, Rennert OM, Iwasawa K, et al. Clinical and genetic studies of Japanese homozygotes disease L444P mutation. Hum Genet, 1999,105, 120-126.

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