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1
Angiokeratoma corporis diffusum: the evolution of a disease entity.弥漫性躯体血管角皮瘤:一种疾病实体的演变
Postgrad Med J. 1977 Feb;53(616):78-81. doi: 10.1136/pgmj.53.616.78.
2
Angiokeratoma corporis diffusum (Fabry's diseases).
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3
[Fabry's disease (angiokeratoma corporis diffusum, ceramidetrihexosidosis). Attempted treatment].[法布里病(弥漫性躯体血管角质瘤,神经酰胺三己糖苷贮积症)。治疗尝试]
Pol Tyg Lek. 1979 Aug 27;34(35):1387-9.
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Angiokeratoma corporis diffusum (Fabry's disease) with renal, ocular and possibly cardiac involvement.
Isr J Med Sci. 1970 Sep-Oct;6(5):641-5.
7
[Fabry's diffuse angiokeratoma corporis].
Dtsch Med Wochenschr. 1975 Feb 28;100(9):432-9. doi: 10.1055/s-0028-1106235.
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Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities.一名无明显酶异常患者的弥漫性躯体血管角化瘤
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引用本文的文献

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Fabry's disease: a family study.
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本文引用的文献

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ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S DISEASE).弥漫性躯体血管角质瘤(法布里病)
Arch Dermatol. 1965 Mar;91:206-18.
2
FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID.法布里病:作为一种鞘脂贮积症的分类及一种新型糖脂的部分特性
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THE NEUROPATHOLOGY OF HEREDITARY DYSTOPIC LIPIDOSIS.遗传性异位脂质沉积症的神经病理学
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Angiokeratoma corporis diffusum. A clinical study of eight affected families.弥漫性躯体血管角质瘤。对八个患病家族的临床研究。
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5
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.法布里病的酶缺陷。神经酰胺三己糖苷酶缺乏症。
N Engl J Med. 1967 May 25;276(21):1163-7. doi: 10.1056/NEJM196705252762101.
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Fabry's disease with hypogammaglobulinemia and without angiokeratomas.
Arch Intern Med. 1969 Jul;124(1):72-6.
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Fabry's disease in children.儿童法布里病
Br J Dermatol. 1970 Apr;82(4):329-32. doi: 10.1111/j.1365-2133.1970.tb06828.x.
8
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.
9
Enzyme transplantation in Fabry's disease.法布里病中的酶移植
N Engl J Med. 1972 Dec 14;287(24):1248-9. doi: 10.1056/NEJM197212142872411.
10
Enzyme replacement therapy by renal allotransplantation in Fabry's disease.通过肾同种异体移植对法布里病进行酶替代治疗。
N Engl J Med. 1972 Dec 14;287(24):1215-8. doi: 10.1056/NEJM197212142872402.

弥漫性躯体血管角皮瘤:一种疾病实体的演变

Angiokeratoma corporis diffusum: the evolution of a disease entity.

作者信息

Taaffe A

出版信息

Postgrad Med J. 1977 Feb;53(616):78-81. doi: 10.1136/pgmj.53.616.78.

DOI:10.1136/pgmj.53.616.78
PMID:406603
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2496609/
Abstract

The clinical features, diagnosis management, aetiology and inheritance of angiokeratoma corporis diffusum (Fabry's disease) are discussed and the literature reviewed. The treatment and knowledge generally of this rare condition have not greatly improved in 75 years.

摘要

本文讨论了弥漫性躯体血管角质瘤(法布里病)的临床特征、诊断处理、病因及遗传方式,并对相关文献进行了综述。75年来,针对这种罕见病症的治疗方法及总体认知并未取得显著进展。