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因凝血因子V缺乏导致的家族性颅内出血。

Familial intracranial haemorrhage due to factor V deficiency.

作者信息

Wadia R S, Sangle S A, Kripalaney S, Bafna M, Karve S R

机构信息

Department of Neurology and Pathology, Ruby Hall Clinic, Pune, India.

出版信息

J Neurol Neurosurg Psychiatry. 1992 Mar;55(3):227-8. doi: 10.1136/jnnp.55.3.227.

DOI:10.1136/jnnp.55.3.227
PMID:1564489
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1014735/
Abstract

Strokes may occur with a large number of genetic disorders. Natowicz and Kelley have reviewed the single gene disorders capable of causing familial haemorrhagic strokes. These may be classified into four groups: a) hereditary disorders affecting clotting factors or platelets; b) hereditary disease producing vascular anomaly; c) hereditary disease causing hypertension and d) miscellaneous group including neurofibromatosis, sickle cell disease and tuberous sclerosis.

摘要

许多遗传疾病都可能引发中风。纳托维茨和凯利回顾了能够导致家族性出血性中风的单基因疾病。这些疾病可分为四类:a)影响凝血因子或血小板的遗传性疾病;b)产生血管异常的遗传性疾病;c)导致高血压的遗传性疾病;d)杂类,包括神经纤维瘤病、镰状细胞病和结节性硬化症。

相似文献

1
Familial intracranial haemorrhage due to factor V deficiency.因凝血因子V缺乏导致的家族性颅内出血。
J Neurol Neurosurg Psychiatry. 1992 Mar;55(3):227-8. doi: 10.1136/jnnp.55.3.227.
2
Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation.印度遗传性因子V缺乏症的分子基础:四个新突变的鉴定及其基因型-表型相关性
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3
Severe factor V deficiency with prolonged bleeding time.严重的凝血因子V缺乏症伴出血时间延长。
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4
Intracranial haemorrhage due to factor V deficiency.因因子V缺乏导致的颅内出血。
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[Congenital deficiency of factor V (author's transl)].先天性因子V缺乏(作者译)
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A case of coagulation factor V deficiency complicated with intracranial hemorrhage.1例凝血因子V缺乏症合并颅内出血
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A neonatal presentation of factor V deficiency: a case report.新生儿期因子V缺乏症表现:一例报告
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[Congenital factor V deficiency and intraventricular hemorrhage of prenatal origin].[先天性因子V缺乏与产前起源的脑室内出血]
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[A disorder in the coagulation mechanism as a possible cause for the development of an antenatal intracranial hemorrhage].
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引用本文的文献

1
A case of coagulation factor V deficiency complicated with intracranial hemorrhage.1例凝血因子V缺乏症合并颅内出血
Korean J Intern Med. 1997 Jan;12(1):80-3. doi: 10.3904/kjim.1997.12.1.80.

本文引用的文献

1
A familial disorder of blood coagulation due to deficiency of the labile factor.
Q J Med. 1952 Jan;21(81):19-31.
2
Parahemophilia (Owren's disease); report of a case in a woman with studies on other members of her family.副血友病(奥伦氏病);一名女性病例报告及对其家族其他成员的研究
J Lab Clin Med. 1951 Dec;38(6):842-5.
3
Hereditary deficiency of proaccelerin (parahemophilia): a family study.前加速素(副血友病)遗传性缺乏症:一项家族研究。
J Lab Clin Med. 1955 Jul;46(1):98-110.
4
Hereditary labile factor (factor V) deficiency.遗传性不稳定因子(因子V)缺乏症。
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5
Observations on hemophilia, parahemophilia, and coexistent hemophilia and parahemophilia; alterations in the platelets and the thromboplastin generation test.关于血友病、副血友病以及并存的血友病和副血友病的观察;血小板及凝血活酶生成试验的改变
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6
Factor V deficiency and its reversal with gluten restriction. In a patient with celiac disease.因子V缺乏症及其通过限制麸质摄入的逆转。在一名患有乳糜泻的患者中。
Arch Intern Med. 1983 Oct;143(10):2009-10.
7
Congenital factor V deficiency (parahaemophilia) in two siblings.两名同胞患先天性因子V缺乏症(副血友病)。
J Indian Med Assoc. 1968 Oct 16;51(8):403-6.
8
Parahemophilia. Factor V deficiency.
Med Clin North Am. 1972 Jan;56(1):119-25. doi: 10.1016/s0025-7125(16)32427-0.
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Mendelian etiologies of stroke.中风的孟德尔病因。
Ann Neurol. 1987 Aug;22(2):175-92. doi: 10.1002/ana.410220202.
10
Observations on a factor-V inhibitor.关于一种凝血因子V抑制剂的观察报告。
Br J Haematol. 1975 Mar;29(3):397-404. doi: 10.1111/j.1365-2141.1975.tb01837.x.