Anderson-Fabry disease.
作者信息
Morgan S H, Crawfurd M A
机构信息
Division of Inherited Metabolic Diseases, Clinical Research Centre, Middlesex.
出版信息
BMJ. 1988 Oct 8;297(6653):872-3. doi: 10.1136/bmj.297.6653.872.
Abstract
摘要
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Anderson-Fabry disease.安德森-法布里病
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The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.患者报告的关节表现对法布里病患者生活质量的影响。
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Treatment of lysosomal storage disorders.溶酶体贮积症的治疗。
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Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.遗传咨询实践中的法布里病：美国国家遗传咨询师协会的建议
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Medical genetics: 3. An approach to the adult with a genetic disorder.医学遗传学：3. 针对患有遗传疾病的成年人的一种方法。
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本文引用的文献
1
Report of the committee on the genetic constitution of the x and y chromosomes. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.X和Y染色体遗传构成委员会的报告。奥斯陆会议（1981年）：第六届人类基因定位国际研讨会。
Cytogenet Cell Genet. 1982;32(1-4):179-90. doi: 10.1159/000131697.
2
Ten-year experience in renal transplantation for Fabry's disease.法布里病肾移植的十年经验。
Transplant Proc. 1981 Mar;13(1 Pt 1):57-9.
3
Regional localization of alpha-galactosidase (GLA) to Xpter----q22, hexosaminidase B (HEXB) to 5q13----qter, and arylsulfatase B (ARSB) to 5pter----q13.α-半乳糖苷酶（GLA）定位于Xpter----q22区域，己糖胺酶B（HEXB）定位于5q13----qter区域，芳基硫酸酯酶B（ARSB）定位于5pter----q13区域。
Cytogenet Cell Genet. 1984;38(1):45-9. doi: 10.1159/000132028.
4
Fabry's disease: alpha-galactosidase deficiency.法布里病：α-半乳糖苷酶缺乏症。
Science. 1970 Feb 27;167(3922):1268-9. doi: 10.1126/science.167.3922.1268.
5
Anderson-Fabry disease.安德森-法布里病
Br J Dermatol. 1973 Jan;88(1):1-23.
6
Relief of pain of Fabry's disease by diphenylhydantoin.
Neurology. 1973 Aug;23(8):871-5. doi: 10.1212/wnl.23.8.871.
7
Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease.遗传性酶缺乏的替代疗法。纯化的神经酰胺三己糖苷酶在法布里病中的应用。
N Engl J Med. 1973 Jul 5;289(1):9-14. doi: 10.1056/NEJM197307052890103.
8
Involvement of renal allograft by Fabry's disease.法布里病累及肾移植。
Am J Nephrol. 1987;7(4):316-8. doi: 10.1159/000167493.
9
Natural history and treatment of uremia secondary to Fabry's disease: an European experience.法布里病继发尿毒症的自然病史及治疗：一项欧洲经验。
Nephron. 1987;46(4):353-9. doi: 10.1159/000184389.
10
Echocardiographic abnormalities and disease severity in Fabry's disease.法布里病的超声心动图异常与疾病严重程度
J Am Coll Cardiol. 1986 May;7(5):1157-61. doi: 10.1016/s0735-1097(86)80238-8.
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