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Fabry病肾脏组织学检查1例报告 被引量:2

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出处 《浙江医学》 CAS 2001年第12期760-761,共2页 Zhejiang Medical Journal
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参考文献4

  • 1Tisher CC, Brenner BM. Renal Pathology. Philadephia: Lippincott Co, 1989. 1197 ~ 1204.
  • 2Ropers HH, Wienker TF, Crimm T, et al. Evidence for preferential X-chromosomle inactivation in a family with Fabry disease. Am J Hum Genet, 1977,29: 361.
  • 3Farge D, Nadler S, Wolf L, et al. Diagnostic value of kidney biopsy in heterozygous Fabry's disease. Arch Pathol Lab Med, 1985, 109(1):85.
  • 4Rodriguez FH, Hoffmann EO, Ordinario AT, et al. Fabry' s disease in a heterozygous woman. Arch Pathol Lab Med, 1985,109( 1 ) :89.

同被引文献32

  • 1白云凯 肖桦 李艳锋 等.以肾损害为主要表现的Fabry病一例[J].中华肾脏病杂志,2000,16:6-6.
  • 2彭荔熏.不常见的内分泌疾病与高血压[A].余振球主编.实用高血压学:第二版[C].北京:科学出版社,2000.1169-1177.
  • 3Peters FP, Vermeulen A, Kho TL. Anderson-Fabry's disease: alpha-galactosidase deficiency[J]. Lancet, 2001,357:138 - 140.
  • 4Eng CM, Resnick-Silverman LA, Niehaus DJ, et al. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease[ J ]. Am J Hum Genet. 1993,53 : 1186 - 1197.
  • 5Sakuraba H, Oshima A, Fukuhara Y, et al. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease[J]. Am J Hum Genet, 1990,47:784 - 789.
  • 6Chen CH, Shyu PW, Wu SJ, et al. Identification of a novel point mutation (S65T) in alpha-gahctosidase A gene in Chinese patients with Fabry disease[J ]. Hum Murat, 1998,11:328 - 330.
  • 7Lam CW, Mak YT, Lo YM, et al. Molecular genetic analysis of a Chinese patient with Fabry disease[J]. Chin Mat J ( Engl ), 2000,113:186 - 188.
  • 8Eng CM, Banikazemi M, Gordon RE, et al.A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies[J ]. Am J Hum Genet. 2001,68:711 - 722.
  • 9von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry' s disease with manifestations confined to the myocarditan[J]. N Engl J Meal, 1991,324:395 - 399.
  • 10Eng CM, Resnick-Silverman LA, Niehaus DJ, et al. Nature and frequency of mutations in the alpha- galactosidase A gene that cause Fabry disease[J]. Am J Hum Genet, 1993,53:1186 - 1197.

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