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Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results.

作者信息

Linthorst Gabor E, Poorthuis Ben J H M, Hollak Carla E M

出版信息

J Am Coll Cardiol. 2008 May 27;51(21):2082; author reply 2082-3. doi: 10.1016/j.jacc.2008.02.050.

DOI:10.1016/j.jacc.2008.02.050
PMID:18498967
Abstract
摘要

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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.
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Heterozygote detection in Fabry disease utilizing multiple enzyme activities.利用多种酶活性检测法布里病杂合子。
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[Diagnosis of Fabry disease: usefulness of the clinical investigation].[法布里病的诊断：临床检查的作用]
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Cardiac manifestations of Fabry's disease: a story of mother and son.法布里病的心脏表现：一对母子的故事。
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Fabry disease in childhood.儿童期法布里病
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Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.关于米加司他治疗和管理法布里病患者的共识性建议：一项改良德尔菲研究
Front Med (Lausanne). 2023 Sep 1;10:1220637. doi: 10.3389/fmed.2023.1220637. eCollection 2023.
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