{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:08:54Z","timestamp":1791493734164,"version":"4.3.4"},"reference-count":55,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T00:00:00Z","timestamp":1644278400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy. Lately, oral chaperone therapy was introduced and is a therapeutic alternative in patients with amenable mutations. Early starting of therapy is essential for long-term improvement. This review describes chaperone therapy in Fabry disease.<\/jats:p>","DOI":"10.3390\/ijms23031887","type":"journal-article","created":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T23:37:48Z","timestamp":1644363468000},"page":"1887","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["Chaperone Therapy in Fabry Disease"],"prefix":"10.3390","volume":"23","author":[{"given":"Frank","family":"Weidemann","sequence":"first","affiliation":[{"name":"Department of Medicine I, Klinikum Vest GmbH, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, 45657 Recklinghausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Jovanovic","sequence":"additional","affiliation":[{"name":"The Mark Holland Metabolic Unit, Nothern Care Alliance NHS Foundation Trust, Salford M6 8HD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Herrmann","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, University Hospital Essen, 45147 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irfan","family":"Vardarli","sequence":"additional","affiliation":[{"name":"Department of Medicine I, Klinikum Vest GmbH, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, 45657 Recklinghausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","article-title":"Enzymatic defect in Fabry\u2019s disease. 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