{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:27:06Z","timestamp":1792146426923,"version":"4.4.0"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T00:00:00Z","timestamp":1731283200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T00:00:00Z","timestamp":1731283200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100017959","name":"Health Commission of Hebei Province","doi-asserted-by":"publisher","award":["20241426"],"award-info":[{"award-number":["20241426"]}],"id":[{"id":"10.13039\/100017959","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Objective<\/jats:title>\n                <jats:p>To assess the effectiveness and safety of enzyme replacement therapy (ERT) for treating Fabry disease in clinical practice.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The clinical data of patients with Fabry disease were retrospectively collected and screened according to inclusion and exclusion criteria. The effectiveness of ERT was evaluated by analyzing the improvement in renal dysfunction (decreased estimated glomerular filtration rate (eGFR) and proteinuria), cardiac system injury (mainly increased left ventricular mass index (LVMI)), and neuropathic pain after ERT treatment. The safety of ERT was measured by summarizing the occurrence of adverse events (AE) and adverse drug reactions (ADR) before and after ERT.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Sixteen patients with Fabry disease who underwent ERT treatment 2\u201336 times over a period of 2\u201389\u00a0weeks were enrolled in the study. Among them, 13 received symptomatic treatment based on the involvement of various organs, 14 were treated with anti-inflammatory and anti-allergic drugs, and 16 had no AE or ADR. After ERT, there was no significant difference in (eGFR, microalbumin (mALB), 24\u00a0h urinary protein quantitation (24\u00a0h PRO), urinary albumin\/creatinine ratio (ACR), uric acid (UA), and \u03b22 microglobulin (\u03b22MG) (<jats:italic>P<\/jats:italic>\u2009&gt;\u20090.05), and the renal function remained stable or improved; ERT could significantly reduce left ventricular mass index (LVMI) (<jats:italic>P<\/jats:italic>\u2009=\u20090.043) and lactate dehydrogenase (LDH) (<jats:italic>P<\/jats:italic>\u2009=\u20090.031), and other cardiac function indexes had an improvement trend or remained stable, but the difference was not significant (<jats:italic>P<\/jats:italic>\u2009&gt;\u20090.05). After ERT, the degree of limb pain in three of the four minor patients improved.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>ERT could effectively stabilize or improve renal and cardiac function and relieve neuropathic pain in patients with Fabry disease, and no AE occurred during treatment, and the clinical effectiveness and safety were satisfactory.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03441-1","type":"journal-article","created":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T12:26:40Z","timestamp":1731328000000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study"],"prefix":"10.1186","volume":"19","author":[{"given":"Yingjie","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songyun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9306-3267","authenticated-orcid":false,"given":"Zhang","family":"Zhiqing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,11]]},"reference":[{"issue":"1","key":"3441_CR1","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1186\/s13023-022-02215-x","volume":"17","author":"F Ezgu","year":"2022","unstructured":"Ezgu F, Alpsoy E, Bicik Bahcebasi Z, et al. Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective. Orphanet J Rare Dis. 2022;17(1):90.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"3441_CR2","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1007\/s10897-013-9613-3","volume":"22","author":"DA Laney","year":"2013","unstructured":"Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5):555\u201364.","journal-title":"J Genet Couns"},{"key":"3441_CR3","unstructured":"Thelansis. Fabry disease\u2014market outlook, epidemiology, competitive landscape, and market forecast report\u20142023 To 2033. https:\/\/thelansis.com\/reports\/ fabry-disease-market-outlook-forecast\/."},{"issue":"11","key":"3441_CR4","doi-asserted-by":"publisher","first-page":"2113","DOI":"10.1007\/s11255-020-02546-3","volume":"52","author":"K Turkmen","year":"2020","unstructured":"Turkmen K, Baloglu I. Fabry disease: where are we now? Int Urol Nephrol. 2020;52(11):2113\u201322.","journal-title":"Int Urol Nephrol"},{"key":"3441_CR5","unstructured":"Orphanet. Prevalence and incidence of rare diseases: bibliographic data. https:\/\/www.orpha.net\/orphacom\/cahiers\/docs\/GB\/Prevalence_of_rare_diseases_by_alphabetical_list.pdf."},{"issue":"2","key":"3441_CR6","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1007\/s10545-017-0098-3","volume":"41","author":"AB Burlina","year":"2018","unstructured":"Burlina AB, Polo G, Salviati L, et al. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. J Inherit Metab Dis. 2018;41(2):209\u201319.","journal-title":"J Inherit Metab Dis"},{"key":"3441_CR7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100562","volume":"22","author":"T Sawada","year":"2020","unstructured":"Sawada T, Kido J, Yoshida S, et al. Newborn screening for Fabry disease in the western region of Japan. Mol Genet Metab Rep. 2020;22: 100562.","journal-title":"Mol Genet Metab Rep"},{"issue":"2","key":"3441_CR8","doi-asserted-by":"publisher","first-page":"31","DOI":"10.3390\/ijns9020031","volume":"9","author":"V Gragnaniello","year":"2023","unstructured":"Gragnaniello V, Burlina AP, Commone A, et al. Newborn screening for Fabry disease: current status of knowledge. Int J Neonatal Screen. 2023;9(2):31.","journal-title":"Int J Neonatal Screen"},{"issue":"4","key":"3441_CR9","first-page":"321","volume":"60","author":"Chinese Fabry Disease Expert Panel","year":"2021","unstructured":"Chinese Fabry Disease Expert Panel. Expert consensus for diagnosis and treatment of Fabry disease in China (2021). Chin J Intern Med. 2021;60(4):321\u201330.","journal-title":"Chin J Intern Med"},{"issue":"3","key":"3441_CR10","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1016\/j.amjms.2021.01.009","volume":"362","author":"Y Xiao","year":"2021","unstructured":"Xiao Y, Sun Y, Tian T, et al. Prevalence and clinical characteristics of Fabry disease in Chinese patients with hypertrophic cardiomyopathy. Am J Med Sci. 2021;362(3):260\u20137.","journal-title":"Am J Med Sci"},{"issue":"10","key":"3441_CR11","doi-asserted-by":"publisher","first-page":"2160","DOI":"10.3390\/jcm10102160","volume":"10","author":"Y Fan","year":"2021","unstructured":"Fan Y, Chan TN, Chow JTY, et al. High prevalence of late-onset Fabry cardiomyopathy in a cohort of 499 non-selective patients with left ventricular hypertrophy: the Asian Fabry cardiomyopathy high-risk screening study. J Clin Med. 2021;10(10):2160.","journal-title":"J Clin Med"},{"issue":"01","key":"3441_CR12","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1007\/s44162-024-00037-y","volume":"3","author":"N Chen","year":"2024","unstructured":"Chen N. Progress in the diagnosis and treatment of rare kidney diseases. J Rare Dis. 2024;3(01):12\u20137.","journal-title":"J Rare Dis"},{"key":"3441_CR13","doi-asserted-by":"publisher","first-page":"551","DOI":"10.2147\/TCRM.S247814","volume":"16","author":"I Vardarli","year":"2020","unstructured":"Vardarli I, Rischpler C, Herrmann K, et al. Diagnosis and screening of patients with Fabry disease. Ther Clin Risk Manag. 2020;16:551\u20138.","journal-title":"Ther Clin Risk Manag"},{"key":"3441_CR14","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1007\/s40265-019-01090-4","volume":"79","author":"EH McCaferty","year":"2019","unstructured":"McCaferty EH, Scott LJ. Migalastat: a review in Fabry disease. Drugs. 2019;79:543\u201354.","journal-title":"Drugs"},{"issue":"2","key":"3441_CR15","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/j.kint.2016.10.004","volume":"91","author":"R Schiffmann","year":"2017","unstructured":"Schiffmann R, Hughes DA, Linthorst GE, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a \u201ckidney disease: improving global outcomes\u201d (KDIGO) controversies conference. Kidney Int. 2017;91(2):284\u201393.","journal-title":"Kidney Int"},{"issue":"18","key":"3441_CR16","doi-asserted-by":"publisher","first-page":"2697","DOI":"10.2165\/00003495-200767180-00005","volume":"67","author":"M Rohrbach","year":"2007","unstructured":"Rohrbach M, Clarke JT. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs. 2007;67(18):2697\u2013716.","journal-title":"Drugs"},{"issue":"1","key":"3441_CR17","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1002\/jimd.12131","volume":"43","author":"RH Lachmann","year":"2020","unstructured":"Lachmann RH. Treating lysosomal storage disorders: what have we learnt? J Inherit Metab Dis. 2020;43(1):125\u201332.","journal-title":"J Inherit Metab Dis"},{"key":"3441_CR18","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1056\/NEJM197307052890103","volume":"289","author":"RO Brady","year":"1973","unstructured":"Brady RO, Tallman JF, Johnson WG, et al. Replacement therapy for inherited enzyme defciency. N Engl J Med. 1973;289:9\u201314.","journal-title":"N Engl J Med"},{"issue":"2","key":"3441_CR19","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/j.ymgme.2015.10.007","volume":"117","author":"RJ Hopkin","year":"2016","unstructured":"Hopkin RJ, Jefferies JL, Laney DA, et al. The management and treatment of children with Fabry disease: a United States-based perspective. Mol Genet Metab. 2016;117(2):104\u201313.","journal-title":"Mol Genet Metab"},{"issue":"1\u20132","key":"3441_CR20","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.ymgme.2022.07.010","volume":"137","author":"DP Germain","year":"2022","unstructured":"Germain DP, Altarescu G, Barriales-Villa R, et al. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab. 2022;137(1\u20132):49\u201361.","journal-title":"Mol Genet Metab"},{"issue":"4","key":"3441_CR21","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","volume":"123","author":"A Ortiz","year":"2018","unstructured":"Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416\u201327.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"3441_CR22","first-page":"412","volume":"32","author":"ZY Tang","year":"2023","unstructured":"Tang ZY, Li DY, Zhang P, et al. Enzyme replacement therapy in disease curative effect analysis. J Nephrol Dialy Transplant. 2023;32(5):412\u20138.","journal-title":"J Nephrol Dialy Transplant"},{"issue":"4","key":"3441_CR23","first-page":"322","volume":"59","author":"ZH Lu","year":"2021","unstructured":"Lu ZH, Wang JJ, Yu L, et al. Clinical characteristics and enzyme replacement therapy in four cases of children with Fabry disease. Chin J Pedialr. 2021;59(4):322\u20136.","journal-title":"Chin J Pedialr"},{"issue":"6","key":"3441_CR24","first-page":"497","volume":"38","author":"C Yu","year":"2022","unstructured":"Yu C, Zhou YM, Li Z, et al. Clinical manifestations and efficacy of enzyme replacement therapy in patients with Fabry disease. Chin J Nephrol. 2022;38(6):497\u2013503.","journal-title":"Chin J Nephrol"},{"issue":"8","key":"3441_CR25","first-page":"949","volume":"62","author":"National Expert Cooperation Group of Fabre disease","year":"2023","unstructured":"National Expert Cooperation Group of Fabre disease. Clinical nephrology professional committee of Chinese medical education association. Multi-disciplinary joint full-process management pathway for Fabre\u2019s disease. Chin J Inter Med. 2023;62(8):949\u201355.","journal-title":"Chin J Inter Med"},{"issue":"4","key":"3441_CR26","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1007\/s10157-017-1525-3","volume":"22","author":"H Sakuraba","year":"2018","unstructured":"Sakuraba H, Togawa T, Tsukimura T, et al. Plasma lyso-Gb3: a biomarker for monitoring Fabry patients during enzyme replacement therapy. Clin Exp Nephrol. 2018;22(4):843\u20139.","journal-title":"Clin Exp Nephrol"},{"issue":"7","key":"3441_CR27","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1002\/ejhf.1960","volume":"22","author":"L Ale\u0161","year":"2020","unstructured":"Ale\u0161 L, Germain DP, Iacopo O, et al. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail. 2020;22(7):1076\u201396.","journal-title":"Eur J Heart Fail"},{"issue":"3","key":"3441_CR28","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.ymgme.2018.06.004","volume":"124","author":"C Wanner","year":"2018","unstructured":"Wanner C, Arad M, Baron R, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189\u2013203.","journal-title":"Mol Genet Metab"},{"issue":"1\u20132","key":"3441_CR29","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.ymgme.2022.07.010","volume":"137","author":"DP Germain","year":"2022","unstructured":"Germain DP, Gheona A, Roberto B, et al. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab. 2022;137(1\u20132):49\u201361.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"3441_CR30","first-page":"453","volume":"38","author":"Expert group of Shanghai Nephrology Clinical Quality Control Center","year":"2022","unstructured":"Expert group of Shanghai Nephrology Clinical Quality Control Center. Guidelines for early screening, diagnosis and prevention of chronic kidney disease (2022 edition). Chin J Kidney Dis. 2022;38(5):453\u201364.","journal-title":"Chin J Kidney Dis"},{"issue":"1","key":"3441_CR31","first-page":"1","volume":"3","author":"SMB Paui","year":"2023","unstructured":"Paui SMB, Adeera LMD, Kelly MMS, et al. Clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int Suppl. 2023;3(1):1\u2013323.","journal-title":"Kidney Int Suppl"},{"issue":"1","key":"3441_CR32","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1148\/radiol.2020202903","volume":"298","author":"JC Weinreb","year":"2021","unstructured":"Weinreb JC, Rodby RA, Yee J, et al. Use of intravenous gadolinium-based contrast media in patients with kidney disease: consensus statements from the American College of Radiology and the National Kidney Foundation. Radiology. 2021;298(1):28\u201335.","journal-title":"Radiology"},{"issue":"7","key":"3441_CR33","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1016\/j.jacc.2020.12.024","volume":"77","author":"M Pieroni","year":"2021","unstructured":"Pieroni M, Moon JC, Arbustini E, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol. 2021;77(7):922\u201336.","journal-title":"J Am Coll Cardiol"},{"issue":"1","key":"3441_CR34","first-page":"1","volume":"2","author":"NL Sun","year":"2019","unstructured":"Sun NL, Shi ZW, Huo Y, et al. Expert consensus on the diagnosis and treatment of hypertension combined with left ventricular hypertrophy. Chin J Cardiovasc Med. 2019;2(1):1\u20135.","journal-title":"Chin J Cardiovasc Med"},{"key":"3441_CR35","unstructured":"International conference on Harmonisation of technical requirements for registration of pharmaceuticals for human use. Clinical safety data management: definitions and standards for expedited reporting E2A. https:\/\/www.ich.org\/page\/efficacy-guidelines"},{"issue":"3","key":"3441_CR36","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1111\/cge.13999","volume":"100","author":"V Castelli","year":"2021","unstructured":"Castelli V, Stamerra CA, Dancelo M, et al. Current and experimental therapeutics for Fabry disease. Clin Genet. 2021;100(3):239\u201347.","journal-title":"Clin Genet"},{"issue":"2","key":"3441_CR37","doi-asserted-by":"publisher","first-page":"271","DOI":"10.3390\/biom11020271","volume":"11","author":"K Kok","year":"2021","unstructured":"Kok K, Zwiers KC, Boot RG, et al. Fabry disease: molecular basis, pathophysiology, diagnostics and potential therapeutic directions. Biomolecules. 2021;11(2):271.","journal-title":"Biomolecules"},{"issue":"1","key":"3441_CR38","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1186\/s13023-023-02937-6","volume":"18","author":"A Linhart","year":"2023","unstructured":"Linhart A, Dost\u00e1lov\u00e1 G, Nicholls K, et al. Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study. Orphanet J Rare Dis. 2023;18(1):332.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"3441_CR39","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1002\/jimd.12228","volume":"43","author":"SJ Vander Veen","year":"2020","unstructured":"Vander Veen SJ, Hollak CEM, Van Kuilenburg ABP, et al. Developments in the treatment of Fabry disease. J Inherit Metab Dis. 2020;43(5):908\u201321.","journal-title":"J Inherit Metab Dis"},{"issue":"1\u20132","key":"3441_CR40","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.ymgme.2020.07.007","volume":"131","author":"RU Feldt","year":"2020","unstructured":"Feldt RU, Hughes D, Sunder-Plassmann G, et al. Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study. Mol Genet Metab. 2020;131(1\u20132):219\u201328.","journal-title":"Mol Genet Metab"},{"issue":"6","key":"3441_CR41","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1007\/s40261-023-01275-6","volume":"43","author":"Y Li","year":"2023","unstructured":"Li Y, Li Y, Li L, et al. Pharmacokinetics, safety, and tolerability of single-dose orally administered venglustat in healthy Chinese volunteers. Clin Drug Investing. 2023;43(6):413\u201320.","journal-title":"Clin Drug Investing"},{"issue":"1\u20132","key":"3441_CR42","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/j.ymgme.2021.07.006","volume":"134","author":"JM Domm","year":"2021","unstructured":"Domm JM, Wootton SK, Medin JA, et al. Gene therapy for Fabry disease: progress, challenges, and outlooks on gene-editing. Mol Genet Metab. 2021;134(1\u20132):117\u201331.","journal-title":"Mol Genet Metab"},{"issue":"3","key":"3441_CR43","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1002\/ehf2.12647","volume":"7","author":"C Wanner","year":"2020","unstructured":"Wanner C, Feldt-Rasmussen U, Jovanovic A, et al. Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs post-treatment analysis. ESC Heart Fail. 2020;7(3):825\u201334.","journal-title":"ESC Heart Fail"},{"key":"3441_CR44","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1093\/ndt\/gfr420","volume":"27","author":"DG Warnock","year":"2012","unstructured":"Warnock DG, Ortiz A, Mauer M, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012;27:1042\u20139.","journal-title":"Nephrol Dial Transplant"},{"issue":"5 Suppl. 1","key":"3441_CR45","first-page":"59","volume":"33","author":"S Sestito","year":"2019","unstructured":"Sestito S, Falvo F, Sallemi A, et al. Renal involvement in paediatric Fabry disease. J Bio Reg Homeos Ag. 2019;33(5 Suppl. 1):59\u201363.","journal-title":"J Bio Reg Homeos Ag"},{"key":"3441_CR46","doi-asserted-by":"publisher","first-page":"2149","DOI":"10.2147\/DDDT.S249433","volume":"14","author":"R Parini","year":"2020","unstructured":"Parini R, Pintos-Morell G, Hennermann JB, et al. Analysis of renal and cardiac outcomes in male participants in the Fabry outcome survey starting agalsidase alfa enzyme replacement therapy before and after 18 years of age. Drug Des Devel Ther. 2020;14:2149\u201358.","journal-title":"Drug Des Devel Ther"},{"issue":"12","key":"3441_CR47","doi-asserted-by":"publisher","first-page":"2321","DOI":"10.1016\/j.clinthera.2020.10.007","volume":"42","author":"S Feriozzi","year":"2020","unstructured":"Feriozzi S, Linhart A, Ramaswami U, et al. Effects of baseline left ventricular hypertrophy and decreased renal function on cardiovascular and renal outcomes in patients with Fabry disease treated with agalsidase alfa: a Fabry outcome survey study. Clin Ther. 2020;42(12):2321\u201330.","journal-title":"Clin Ther"},{"issue":"7Pt1","key":"3441_CR48","doi-asserted-by":"publisher","first-page":"1230","DOI":"10.1016\/j.jcmg.2018.11.039","volume":"12","author":"R Perry","year":"2019","unstructured":"Perry R, Shah R, Saiedi M, et al. The role of cardiac imaging in the diagnosis and management of Anderson-Fabry disease. JACC Cardiovasc Imaging. 2019;12(7Pt1):1230\u201342.","journal-title":"JACC Cardiovasc Imaging"},{"key":"3441_CR49","doi-asserted-by":"publisher","first-page":"650","DOI":"10.21037\/cdt-20-593","volume":"11","author":"A Linhart","year":"2021","unstructured":"Linhart A, Pale\u010dek T. Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations. Cardiovasc Diagn. 2021;11:650\u201360.","journal-title":"Cardiovasc Diagn"},{"key":"3441_CR50","doi-asserted-by":"publisher","first-page":"3561","DOI":"10.2147\/DDDT.S313789","volume":"15","author":"D Hughes","year":"2021","unstructured":"Hughes D, Linhart A, Gurevich A, et al. Prompt agalsidase alfa therapy initiation is associated with improved renal and cardiovascular outcomes in a Fabry outcome survey analysis. Drug Des Devel Ther. 2021;15:3561\u201372.","journal-title":"Drug Des Devel Ther"},{"key":"3441_CR51","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.ymgmr.2015.02.002","volume":"3","author":"M Beck","year":"2015","unstructured":"Beck M, Hughes D, Kampmann C, et al. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry outcome survey analysis. Mol Genet Metab Rep. 2015;3:21\u20137.","journal-title":"Mol Genet Metab Rep"},{"key":"3441_CR52","first-page":"253","volume":"75","author":"M Beck","year":"2021","unstructured":"Beck M, Ramaswami U, Hughes D, et al. Fabry outcome survey (FOS): demographics and survival analysis from a 20-year patient registry of Fabry disease. CIIEM. 2021;75:253\u2013345.","journal-title":"CIIEM"},{"key":"3441_CR53","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1186\/s13023-015-0338-2","volume":"10","author":"C Kampmann","year":"2015","unstructured":"Kampmann C, Perrin A, Beck M. Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years\u2019 treatment. Orphanet J Rare Dis. 2015;10:125.","journal-title":"Orphanet J Rare Dis"},{"key":"3441_CR54","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/j.ymgme.2018.04.007","volume":"126","author":"M Spada","year":"2019","unstructured":"Spada M, Baron R, Elliott PM, et al. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease-A systematic literature review by a European panel of experts. Mol Genet Metab. 2019;126:212\u201323.","journal-title":"Mol Genet Metab"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03441-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03441-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03441-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T05:06:47Z","timestamp":1731474407000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03441-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,11]]},"references-count":54,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3441"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03441-1","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,11]]},"assertion":[{"value":"16 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This retrospective case study was approved by the Research Ethics Committee of the Second Hospital of Hebei Medical University (No.2023-R426), and the ethics committee approved that all participants were exempt from signing informed consent forms.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"All authors have approved the submission of the manuscript for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors declare no conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"422"}}