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Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report.

作者信息

Battaglia Yuri, Scalia Simone, Rinaldi Rosa, Storari Alda, Mignani Renzo, Russo Domenico, Duro Giovanni

出版信息

Clin Nephrol. 2019 Feb;91(2):126-128. doi: 10.5414/CN109501.

DOI:10.5414/CN109501
PMID:30474596
Abstract
摘要

相似文献

1
Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report.
Clin Nephrol. 2019 Feb;91(2):126-128. doi: 10.5414/CN109501.
2
Current aspects of Fabry's disease.法布里病的当前研究进展
Med Clin (Barc). 2018 Sep 14;151(5):196-197. doi: 10.1016/j.medcli.2018.01.025. Epub 2018 Mar 6.
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Proteinuria in a male adolescent with hearing loss: Answers.一名患有听力损失的男性青少年的蛋白尿:答案
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4
Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level.携 M296I 突变的α-半乳糖苷酶 A 不会引起血浆神经节苷脂 GM3 水平升高。
Mol Genet Metab. 2012 Nov;107(3):623-6. doi: 10.1016/j.ymgme.2012.07.003. Epub 2012 Jul 14.
5
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.血清 LysoGb3 水平反映法布里病患者的基因型、表型和疾病严重程度。
Mol Genet Metab. 2018 Feb;123(2):148-153. doi: 10.1016/j.ymgme.2017.07.002. Epub 2017 Jul 5.
6
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.在一项针对年轻卒中患者的大型法布里病筛查项目中鉴定出的α-半乳糖苷酶A基因突变的表型特征。
Clin Neurol Neurosurg. 2013 Jul;115(7):1088-93. doi: 10.1016/j.clineuro.2012.11.003. Epub 2012 Dec 4.
7
Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.血浆溶酶体Gb3:法布里病杂合子诊断和治疗的有用生物标志物。
Mol Genet Metab. 2017 Jan-Feb;120(1-2):57-61. doi: 10.1016/j.ymgme.2016.10.006. Epub 2016 Oct 19.
8
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.以α-半乳糖苷酶 A 突变的功能特征为基础的法布里病新分类系统。
PLoS Genet. 2013;9(8):e1003632. doi: 10.1371/journal.pgen.1003632. Epub 2013 Aug 1.
9
Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.应用血浆神经酰胺三己糖苷检测对男性透析患者进行法布雷病筛查。
Clin J Am Soc Nephrol. 2013 Apr;8(4):629-36. doi: 10.2215/CJN.08780812. Epub 2013 Jan 10.
10
Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.通过检测α-半乳糖苷酶A和球三糖神经酰胺对日本早发性中风患者进行法布里病筛查。
J Stroke Cerebrovasc Dis. 2018 Dec;27(12):3563-3569. doi: 10.1016/j.jstrokecerebrovasdis.2018.08.025. Epub 2018 Sep 7.

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J Rural Med. 2025 Jul;20(3):233-237. doi: 10.2185/jrm.2024-050. Epub 2025 Jul 1.
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Dapaglifozin on Albuminuria in Chronic Kidney Disease Patients with FabrY Disease: The DEFY Study Design and Protocol.达格列净治疗法布里病慢性肾病患者蛋白尿的研究:DEFY研究设计与方案
J Clin Med. 2023 May 26;12(11):3689. doi: 10.3390/jcm12113689.
3
Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.
法布里病筛查过程中的不足:未接受透析的慢性肾病患者分析
Front Med (Lausanne). 2021 Feb 9;8:640876. doi: 10.3389/fmed.2021.640876. eCollection 2021.
4
Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.新的法布里病致病突变的基因型-表型相关性。
Medicina (Kaunas). 2019 May 7;55(5):122. doi: 10.3390/medicina55050122.