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The Changing Landscape of Fabry Disease.

作者信息

Svarstad Einar, Marti Hans Peter

机构信息

Department of Medicine, Haukeland University Hospital, Bergen, Norway; and.

Department of Clinical Medicine, University of Bergen, Bergen, Norway.

出版信息

Clin J Am Soc Nephrol. 2020 Apr 7;15(4):569-576. doi: 10.2215/CJN.09480819. Epub 2020 Mar 4.

DOI:10.2215/CJN.09480819
PMID:32132142
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7133143/
Abstract
摘要

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The Changing Landscape of Fabry Disease.法布里病不断变化的形势
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Genetics and Gene Therapy of Anderson-Fabry Disease.安德森-法布里病的遗传学和基因治疗。
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Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications.法布里病的酶替代疗法:最新进展与临床应用
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Paradoxical Response to Enzyme Replacement Therapy of Fabry Disease Cardiomyopathy.法布里病心肌病酶替代疗法的矛盾反应
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Stroke and Chronic Kidney Disease in Fabry Disease.法布瑞氏病中的中风和慢性肾脏病。
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Orphanet J Rare Dis. 2025 Aug 10;20(1):417. doi: 10.1186/s13023-025-03940-9.
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confocal microscopic study of cornea verticillata and limbus deposits in patients with Fabry disease.法布里病患者角膜涡状浑浊和角膜缘沉积物的共聚焦显微镜研究
Front Med (Lausanne). 2025 Feb 5;12:1541510. doi: 10.3389/fmed.2025.1541510. eCollection 2025.
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Unexpected Hypotension in a Female Patient with Fabry Disease: Switching from Agalsidase α to β after Long-term ERT.法布里病女性患者出现意外低血压:长期酶替代治疗后从α-半乳糖苷酶转换为β-半乳糖苷酶
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Health State Utility Values in Fabry Disease: Insights from the Pegunigalsidase Alfa Clinical Trials.法布里病的健康状态效用值:来自聚乙二醇化α-半乳糖苷酶临床试验的见解。
Adv Ther. 2025 Mar;42(3):1421-1434. doi: 10.1007/s12325-024-03095-2. Epub 2025 Jan 23.
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Int Urol Nephrol. 2024 Oct;56(10):3161-3172. doi: 10.1007/s11255-024-04042-4. Epub 2024 Apr 13.
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Prevalence of Kidney and Urinary Tract Complications in Fabry Disease from 2000 to 2020: A Global Cohort Study Including 10,637 Patients.2000 年至 2020 年期间法布瑞病肾脏和泌尿道并发症的流行情况:一项纳入 10637 例患者的全球队列研究。
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J Transl Med. 2023 Sep 5;21(1):591. doi: 10.1186/s12967-023-04475-y.
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