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According to their treatment, patients were separated in 3 groups (untreated,\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200971; newly ERT-treated,\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200947; long-term ERT-treated,\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200941). Clinical presentation and laboratory data, including plasma globotriaosylsphingosine (lyso-Gb\n                      <jats:sub>3<\/jats:sub>\n                      ) levels were assessed. The observation time ranged from 49 to 62 months. \u223c90% of female patients treated with ERT presented with at least one organ manifestation justifying treatment according to current European guidelines. Untreated females showed a less severe disease load with less FD-typical organ damage. All groups presented with a stable cardiac status (all\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&gt;\u20090.05) over time. ERT-treated females presented with a slight yearly loss of estimated glomerular filtration (eGFR) over time (both\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.05), which was comparable to the natural decline for this age. Plasma lyso-Gb\n                      <jats:sub>3<\/jats:sub>\n                      levels were higher in ERT-treated females and decreased by 0.95 [-4.44 to 4.08] ng\/ml\/year (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0002) in those who were newly ERT-treated.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Severely affected females with FD who were treated with ERT, and less severely affected untreated females, showed a broadly stable disease course over 5 years. The treatment decisions were largely based on the European guidelines for FD. In untreated females, it is crucial to explore if organ involvement is FD-related in order to make the correct treatment decision.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03503-4","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T05:58:39Z","timestamp":1735279119000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease"],"prefix":"10.1186","volume":"19","author":[{"given":"Malte","family":"Lenders","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albina","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Cybulla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Kaufeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja Friederike","family":"K\u00f6hn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole Maria","family":"Muschol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Kurschat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3243-5508","authenticated-orcid":false,"given":"Eva","family":"Brand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,27]]},"reference":[{"key":"3503_CR1","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","volume":"372","author":"YA Zarate","year":"2008","unstructured":"Zarate YA, Hopkin RJ. 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AN received speaker honoraria and research grants from Amicus, Takeda and Sanofi Genzyme. AFK received speaker honoraria and\/or travel grants from Amicus Therapeutics, Biomarin, Orphazyme, Sanofi Genzyme and Takeda. NMM is a consultant for Amicus Therapeutics, Biomarin, Chiesi, JCR, Sanofi Genzyme, Takeda, and Orphazyme and received speakers honoraria and travel grants from Amicus Therapeutics, Biomarin, Chiesi, Sanofi Genzyme, and Takeda. JK received speaker honoraria and\/or travel funding from Amicus Therapeutics, Sanofi Genzyme, Chiesi, Novartis and Takeda. CK received speaker honoraria and travel support from Amicus Therapeutics, Chiesi, Eleva, Sanofi Genzyme, and Takeda. MC received speaker honoraria\/travel grants from Takeda, Amicus Therapeutics, Idorsia, and Alexion. EB received research grants and speaker honoraria from Sanofi Genzyme, Takeda, Chiesi, Eleva, and Amicus Therapeutics.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"490"}}