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GLA insufficiency should not be called Fabry disease.

作者信息

Houge Gunnar, Langeveld Mirjam, Oliveira Joao-Paulo

机构信息

Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

Institute of Clinical Medicine K2, Faculty of Medicine, University of Bergen, Bergen, Norway.

出版信息

Eur J Hum Genet. 2025 Mar;33(3):263-265. doi: 10.1038/s41431-024-01657-0. Epub 2024 Jun 27.

DOI:10.1038/s41431-024-01657-0
PMID:38937656
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11893757/
Abstract
摘要

相似文献

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
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Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.血浆Globotriaosylsphingosine 和 α-半乳糖苷酶 A 活性作为 Fabry 病在大型日本队列中的联合筛查生物标志物。
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[Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree].[一个家系中由GLA基因变异引起的法布里病的基因型-表型分析]
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Magnitude of the Potential Screening Gap for Fabry Disease in Manitoba: A Population-Based Retrospective Cohort Study.曼尼托巴省法布里病潜在筛查差距的规模：一项基于人群的回顾性队列研究。
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Eur J Med Genet. 2020 Feb;63(2):103703. doi: 10.1016/j.ejmg.2019.103703. Epub 2019 Jun 11.

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2
Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha () gene.一名法布里病患者存在肾脏、心脏和神经系统疾病，其半乳糖苷酶α（）基因的c.639+5G>C内含子变异呈半合子状态。
Porto Biomed J. 2025 Apr 11;10(2):e291. doi: 10.1097/j.pbj.0000000000000291. eCollection 2025 Mar-Apr.
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Prevalence of Fabry Disease in Patients on Dialysis in France.法国透析患者中 Fabry 病的患病率。
Int J Mol Sci. 2024 Sep 20;25(18):10104. doi: 10.3390/ijms251810104.
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Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.建立法布里病的治疗效果：观察性建议以改善疗效。
Int J Mol Sci. 2024 Sep 9;25(17):9752. doi: 10.3390/ijms25179752.

本文引用的文献

1
A genomic mutational constraint map using variation in 76,156 human genomes.基于 76156 个人类基因组的变异，绘制出基因组突变约束图谱。
Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6.
2
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.c.376A>G，（p.Ser126Gly）α-半乳糖苷酶A突变诱导内质网应激、未折叠蛋白反应并减少酶向溶酶体的转运：可能与晚发型法布里病的发病机制相关。
Mol Genet Metab. 2023 Nov;140(3):107700. doi: 10.1016/j.ymgme.2023.107700. Epub 2023 Sep 14.
3
Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels.使用血浆神经酰胺三己糖苷水平对法布里病患者的自然病程进行早期风险分层。
Clin J Am Soc Nephrol. 2023 Oct 1;18(10):1272-1282. doi: 10.2215/CJN.0000000000000239. Epub 2023 Jul 27.
4
Gene Expression Analysis in -Mutant Zebrafish Reveals Enhanced Ca Signaling Similar to Fabry Disease.- 突变斑马鱼中的基因表达分析显示增强的 Ca 信号类似于法布里病。
Int J Mol Sci. 2022 Dec 26;24(1):358. doi: 10.3390/ijms24010358.
5
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance.俄勒冈州法布雷病的新生儿筛查：即将揭示 A143T 及意义不明的变异体冰山一角。
Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):206-214. doi: 10.1002/ajmg.c.31998. Epub 2022 Sep 26.
6
Cardiomyopathy associated with the Ala143Thr variant of the gene.与基因的 Ala143Thr 变异相关的心肌病。
Heart. 2020 Apr;106(8):609-615. doi: 10.1136/heartjnl-2019-315933. Epub 2020 Jan 16.
7
Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.法布里病的多个表型领域及其在建立基因型-表型相关性中的意义。
Appl Clin Genet. 2019 Mar 5;12:35-50. doi: 10.2147/TACG.S146022. eCollection 2019.
8
Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.涡状角膜有助于诊断非典型表型的法布里病：来自荷兰队列研究的结果及系统评价
Br J Ophthalmol. 2016 Jan;100(1):3-8. doi: 10.1136/bjophthalmol-2014-306433. Epub 2015 Feb 12.
9
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.