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1
Fabry or not Fabry--a question of ascertainment.是法布里病还是非法布里病——一个诊断问题。
Eur J Hum Genet. 2011 Nov;19(11):1111. doi: 10.1038/ejhg.2011.87. Epub 2011 May 18.
2
Clinical and genetic analysis of Fabry disease: report of six cases including three heterozygous females.法布里病的临床与遗传学分析：6例报告，包括3例杂合子女性
J Dermatol Sci. 2008 Oct;52(1):61-4. doi: 10.1016/j.jdermsci.2008.04.009. Epub 2008 Jun 13.
3
Previously Unreported in Women Pro409Ser Variant Is Associated With Fabry Disease.
Circ Cardiovasc Genet. 2017 Aug;10(4):e001661. doi: 10.1161/CIRCGENETICS.116.001661.
4
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
Hum Mutat. 1998;Suppl 1:S213-6. doi: 10.1002/humu.1380110169.
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Novel alpha-galactosidase A mutation in a female with recurrent strokes.一位女性复发性中风患者的新型α-半乳糖苷酶 A 突变。
Clin Biochem. 2012 Nov;45(16-17):1525-30. doi: 10.1016/j.clinbiochem.2012.07.085. Epub 2012 Jul 20.
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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.法布里病：50个导致典型表型的新型α-半乳糖苷酶A突变的鉴定及29个错义突变的三维结构分析
Hum Genomics. 2006 Mar;2(5):297-309. doi: 10.1186/1479-7364-2-5-297.
7
Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results.用于确定女性是否患有法布里病的酶活性检测会产生40%的假阴性结果。
J Am Coll Cardiol. 2008 May 27;51(21):2082; author reply 2082-3. doi: 10.1016/j.jacc.2008.02.050.
8
Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.两种导致法布里病的新型α-半乳糖苷酶 A 突变：杂合子女性中的错义突变 M11V 和半合子男性中的无义突变 R190X。
Clin Biochem. 2011 Jul;44(10-11):809-12. doi: 10.1016/j.clinbiochem.2011.04.022. Epub 2011 May 4.
9
Images in cardiology. Fabry's disease, an X-linked recessive condition, can have isolated cardiac manifestations in heterozygote females.心脏病学影像。法布里病是一种X连锁隐性疾病，杂合子女性可能有孤立的心脏表现。
Heart. 2006 May;92(5):685. doi: 10.1136/hrt.2005.075085.
10
A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.一例女性 Fabry 病杂合子患者，伴多发血管瘤而无血管角质瘤。
Australas J Dermatol. 2010 Feb;51(1):36-8. doi: 10.1111/j.1440-0960.2009.00590.x.

引用本文的文献

1
GLA insufficiency should not be called Fabry disease.GLA缺乏不应被称为法布里病。
Eur J Hum Genet. 2025 Mar;33(3):263-265. doi: 10.1038/s41431-024-01657-0. Epub 2024 Jun 27.
2
Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.女性法布里病：遗传基础、可用生物标志物和临床表现。
Genes (Basel). 2023 Dec 26;15(1):37. doi: 10.3390/genes15010037.
3
Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions.法布里病：分子基础、病理生理学、诊断及潜在治疗方向
Biomolecules. 2021 Feb 12;11(2):271. doi: 10.3390/biom11020271.
4
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.溶血型Gb3升高表明R118C GLA突变是一种病理性法布里变异体。
JIMD Rep. 2019;45:95-98. doi: 10.1007/8904_2018_146. Epub 2018 Dec 20.
5
Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.法布里病的迟发变异：阿根廷高危人群筛查结果
Mol Genet Metab Rep. 2015 Jun 7;4:19-24. doi: 10.1016/j.ymgmr.2015.05.006. eCollection 2015 Sep.
6
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.患有神经性疼痛、血管角质瘤或涡状角膜病变的患者中Fabry病的诊断不确定性：关于诊断方法和随访的共识
JIMD Rep. 2014;17:83-90. doi: 10.1007/8904_2014_342. Epub 2014 Sep 16.
7
Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT.质疑法布里病中GLA p.Ala143Thr“突变”的致病作用：对筛查研究和酶替代疗法的启示
JIMD Rep. 2013;8:101-8. doi: 10.1007/8904_2012_167. Epub 2012 Jul 29.
8
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.溶血神经酰胺三己糖苷表明α-半乳糖苷酶A突变D313Y在法布里病中与临床无关。
JIMD Rep. 2013;7:99-102. doi: 10.1007/8904_2012_154. Epub 2012 Jul 1.

本文引用的文献

1
Fabry disease in donor kidneys with 3- and 12-year follow-up after transplantation.供肾中的法布里病：移植后3年和12年随访
NDT Plus. 2010 Jun;3(3):303-305. doi: 10.1093/ndtplus/sfq036. Epub 2010 Apr 8.
2
Screening for Fabry disease in high-risk populations: a systematic review.对高危人群进行法布瑞氏病的筛查：一项系统性综述。
J Med Genet. 2010 Apr;47(4):217-22. doi: 10.1136/jmg.2009.072116. Epub 2009 Sep 24.
3
Fabry disease.法布里病
Pharmacol Ther. 2009 Apr;122(1):65-77. doi: 10.1016/j.pharmthera.2009.01.003. Epub 2009 Feb 8.
4
Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria.法布里病和微量白蛋白尿患儿及青少年肾活检中肾小球和血管变化的突出表现
Clin Ther. 2008;30 Suppl B:S42. doi: 10.1016/s0149-2918(08)80036-7.
5
[Fabry disease--a diagnostic and therapeutic challenge].[法布里病——诊断与治疗的挑战]
Tidsskr Nor Laegeforen. 2005 Apr 21;125(8):1004-6.
6
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.由于父系生殖系嵌合α-半乳糖苷酶A基因突变导致的法布里病复发。
Am J Med Genet A. 2005 Apr 1;134A(1):84-7. doi: 10.1002/ajmg.a.30533.

Fabry or not Fabry--a question of ascertainment.

作者信息

Houge Gunnar, Tøndel Camilla, Kaarbøe Oyvind, Hirth Asle, Bostad Leif, Svarstad Einar

出版信息

Eur J Hum Genet. 2011 Nov;19(11):1111. doi: 10.1038/ejhg.2011.87. Epub 2011 May 18.

DOI:10.1038/ejhg.2011.87
PMID:21587323
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3198147/
Abstract
摘要