{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:54:09Z","timestamp":1794020049322,"version":"4.8.0"},"reference-count":204,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T00:00:00Z","timestamp":1752796800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Takeda Development Center Americas, Inc"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Objectives: This systematic literature review aimed to identify studies assessing the clinical efficacy and real-world effectiveness of current and emerging treatments for Fabry disease. Methods: Searches of the MEDLINE, EMBASE, and Cochrane library databases, as well as relevant congress proceedings, were conducted to identify publications reporting on studies in patients of any age, sex, race, or ethnicity who received any approved or experimental treatment for Fabry disease, published before 17 June 2024. Results: Of 1881 publications screened, 234 reported data on renal, cardiac, cerebrovascular, and disease severity outcomes from 225 studies. The majority of reported studies were observational in nature (n = 150; 67%) and involved only adults (n = 172; 74%). Study designs and patient populations were highly heterogeneous, and cross-study conclusions about the effectiveness of different therapies could not be made. Enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta stabilized renal function and cardiac structure in patients with Fabry disease. Early initiation of ERT in childhood or young adulthood was associated with better renal and cardiac outcomes than treatment initiation at a later age. The small number of comparator studies of agalsidase alfa and agalsidase beta suggested similar efficacy. Patients treated with migalastat and pegunigalsidase alfa also maintained stable renal function and cardiac structure. Conclusions: Overall, current treatments slow the progression of renal and cardiac decline in patients with Fabry disease. Large cohort studies with long-term follow-up and baseline stratification based on clinical phenotype are needed to address evidence gaps and provide clinicians with robust data to inform treatment decisions.<\/jats:p>","DOI":"10.3390\/jcm14145131","type":"journal-article","created":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T15:35:51Z","timestamp":1752852951000},"page":"5131","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review"],"prefix":"10.3390","volume":"14","author":[{"given":"Ana","family":"Jovanovic","sequence":"first","affiliation":[{"name":"The Mark Holland Metabolic Unit, Northern Care Alliance NHS Foundation Trust, Salford M6 8HD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7687-5781","authenticated-orcid":false,"given":"Eve","family":"Miller-Hodges","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Science, Queen\u2019s Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felicia","family":"Castriota","sequence":"additional","affiliation":[{"name":"Global Evidence and Outcomes, Data and Quantitative Sciences Institute, Takeda Development Center Americas, Inc., Cambridge, MA 02142, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Obaro","family":"Evuarherhe","sequence":"additional","affiliation":[{"name":"Oxford PharmaGenesis Ltd., Tubney OX13 5QJ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6084-5900","authenticated-orcid":false,"given":"Olulade","family":"Ayodele","sequence":"additional","affiliation":[{"name":"Global Evidence and Outcomes, Data and Quantitative Sciences Institute, Takeda Development Center Americas, Inc., Cambridge, MA 02142, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4531-9173","authenticated-orcid":false,"given":"Derralynn","family":"Hughes","sequence":"additional","affiliation":[{"name":"Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London WC1E 6BT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9347-2386","authenticated-orcid":false,"given":"Guillem","family":"Pintos-Morell","sequence":"additional","affiliation":[{"name":"Vall d\u2019Hebron Institute of Research, Vall d\u2019Hebron Barcelona Hospital Campus, MPS-Lisosomales Medical Committee, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA), Dasa Genomics, and Casa dos Raros, Porto Alegre 90610-261, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8420-8447","authenticated-orcid":false,"given":"Sandro","family":"Feriozzi","sequence":"additional","affiliation":[{"name":"Nephrology Department, University Campus Bio-Medico, University of Rome, 00128 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6491-6953","authenticated-orcid":false,"given":"Csaba","family":"Siffel","sequence":"additional","affiliation":[{"name":"Global Evidence and Outcomes, Data and Quantitative Sciences Institute, Takeda Development Center Americas, Inc., Cambridge, MA 02142, USA"},{"name":"College of Allied Health Sciences, Augusta University, Augusta, GA 30912, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13023-015-0253-6","article-title":"Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry Working Group consensus document","volume":"10","author":"Biegstraaten","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.38.11.769","article-title":"Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ymgme.2022.07.010","article-title":"An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease","volume":"137","author":"Germain","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_6","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (2024, October 14). Fabry disease, GeneReviews\u00ae [Internet], Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1292\/pdf\/Bookshelf_NBK1292.pdf."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1681\/ASN.2016090964","article-title":"Characterization of classical and nonclassical Fabry disease: A multicenter study","volume":"28","author":"Arends","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_8","unstructured":"European Medicines Agency (2024, October 14). Replagal. Summary of Product Characteristics 2022. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/replagal-epar-product-information_en.pdf."},{"key":"ref_9","unstructured":"European Medicines Agency (2024, October 14). Fabrazyme. Summary of Product Characteristics 2024. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/fabrazyme-epar-product-information_en.pdf."},{"key":"ref_10","unstructured":"Food and Drug Administration (2024, October 14). Fabrazyme. Prescribing Information 2024, Available online: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2024\/103979s5313lbl.pdf."},{"key":"ref_11","unstructured":"European Medicines Agency (2024, October 14). Elfabrio. Summary of Product Characteristics 2023. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/elfabrio-epar-product-information_en.pdf."},{"key":"ref_12","unstructured":"Food and Drug Administration (2024, October 14). Elfabrio. Prescribing Information 2023, Available online: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2023\/761161s000lbl.pdf."},{"key":"ref_13","unstructured":"European Medicines Agency (2024, October 14). Galafold. Summary of Product Characteristics 2023. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/galafold-epar-product-information_en.pdf."},{"key":"ref_14","unstructured":"Food and Drug Administration (2024, October 14). Galafold. Prescribing Information 2024, Available online: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2024\/208623s008lbl.pdf."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1007\/s40265-021-01486-1","article-title":"Fabry disease: The current treatment landscape","volume":"81","author":"Lenders","year":"2021","journal-title":"Drugs"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1002\/jimd.12228","article-title":"Developments in the treatment of Fabry disease","volume":"43","author":"Hollak","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"n71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1007\/s10545-006-0361-5","article-title":"Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease","volume":"29","author":"Bierer","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1097\/GIM.0b013e318170f868","article-title":"Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme","volume":"10","author":"Bodensteiner","year":"2008","journal-title":"Genet. Med."},{"key":"ref_20","first-page":"S77","article-title":"Prompt initiation of agalsidase alfa therapy is associated with improved cardiovascular and renal outcomes in the Fabry Outcome Survey (FOS)","volume":"129","author":"Hughes","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_21","first-page":"31","article-title":"Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events","volume":"14","author":"Beck","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1016\/j.clinthera.2020.10.007","article-title":"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","volume":"42","author":"Feriozzi","year":"2020","journal-title":"Clin. Ther."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"106967","DOI":"10.1016\/j.ymgme.2022.106967","article-title":"Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry","volume":"138","author":"Hopkin","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"3561","DOI":"10.2147\/DDDT.S313789","article-title":"Prompt agalsidase alfa therapy initiation is associated with improved renal and cardiovascular outcomes in a Fabry Outcome Survey analysis","volume":"15","author":"Hughes","year":"2021","journal-title":"Drug Des. Dev. Ther."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1136\/jmedgenet-2015-103486","article-title":"Time to treatment benefit for adult patients with Fabry disease receiving agalsidase beta: Data from the Fabry Registry","volume":"53","author":"Ortiz","year":"2016","journal-title":"J. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.2147\/DDDT.S249433","article-title":"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","volume":"14","author":"Parini","year":"2020","journal-title":"Drug Des. Dev. Ther."},{"key":"ref_27","first-page":"S188","article-title":"Differential effects of agalsidase alfa and agalsidase beta in Fabry out-comes: 10 year outcomes from the Canadian Fabry Disease Initiative","volume":"41","author":"Sirrs","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Vedder, A.C., Linthorst, G.E., Houge, G., Groener, J.E., Ormel, E.E., Bouma, B.J., Aerts, J.M., Hirth, A., Hollak, C.E., and Schiffmann, R. (2007). Treatment of Fabry disease: Outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg\/kg. PLoS ONE, 2.","DOI":"10.1371\/journal.pone.0000598"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/jmedgenet-2017-104863","article-title":"Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: An international cohort study","volume":"55","author":"Arends","year":"2018","journal-title":"J. Med. Genet."},{"key":"ref_30","first-page":"65","article-title":"Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina","volume":"11","author":"Cabrera","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Arends, M., Biegstraaten, M., Hughes, D.A., Mehta, A., Elliott, P.M., Oder, D., Watkinson, O.T., Vaz, F.M., van Kuilenburg, A.B.P., and Wanner, C. (2017). Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0182379"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.ymgme.2017.05.001","article-title":"Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease","volume":"121","author":"Arends","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2021.12.004","article-title":"Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression","volume":"135","author":"Hirsch","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000464312","article-title":"Disease progression modeling to evaluate the effects of enzyme replacement therapy on kidney function in adult patients with the classic phenotype of Fabry disease","volume":"42","author":"Nowak","year":"2017","journal-title":"Kidney Blood Press. Res."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3310\/hta16390","article-title":"The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: A longitudinal cohort study of people with lysosomal storage disorders","volume":"16","author":"Wyatt","year":"2012","journal-title":"Health Technol. Assess."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1007\/s10545-014-9717-4","article-title":"Long-term effectiveness of enzyme replacement therapy in Fabry disease: Results from the NCS-LSD cohort study","volume":"37","author":"Anderson","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1080\/14017431.2017.1332383","article-title":"Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: A nationwide Danish cohort study","volume":"51","author":"Madsen","year":"2017","journal-title":"Scand. Cardiovasc. J."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2054358120985627","DOI":"10.1177\/2054358120985627","article-title":"Renal manifestations of Fabry disease: A narrative review","volume":"8","author":"Silva","year":"2021","journal-title":"Can. J. Kidney Health Dis."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1111\/j.1365-2362.2004.01424.x","article-title":"Fabry disease: Overall effects of agalsidase alfa treatment","volume":"34","author":"Beck","year":"2004","journal-title":"Eur. J. Clin. Investig."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"107118","DOI":"10.1016\/j.ymgme.2022.107118","article-title":"Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey","volume":"138","author":"Giugliani","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"107273","DOI":"10.1016\/j.ymgme.2022.107273","article-title":"Early initiation of agalsidase alfa treatment improves clinical outcomes in male patients with classical Fabry disease: A Fabry Outcome Survey (FOS) analysis","volume":"138","author":"Kampmann","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"3705","DOI":"10.2147\/DDDT.S207856","article-title":"Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey (FOS) analysis","volume":"13","author":"Ramaswami","year":"2019","journal-title":"Drug Des. Dev. Ther."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Cybulla, M., Nicholls, K., Feriozzi, S., Linhart, A., Torras, J., Vujkovac, B., Botha, J., Anagnostopoulou, C., and West, M.L. (2022). Renoprotective effect of agalsidase alfa: A long-term follow-up of patients with Fabry disease. J. Clin. Med., 11.","DOI":"10.3390\/jcm11164810"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1159\/000168482","article-title":"Agalsidase alfa slows the decline in renal function in patients with Fabry disease","volume":"29","author":"Feriozzi","year":"2008","journal-title":"Am. J. Nephrol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"60","DOI":"10.2215\/CJN.03130411","article-title":"The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy","volume":"7","author":"Feriozzi","year":"2012","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_46","first-page":"1771","article-title":"An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naive to enzyme replacement therapy","volume":"10","author":"Longo","year":"2016","journal-title":"Drug Des. Dev. Ther."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s13023-015-0338-2","article-title":"Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: Cardiac outcomes after 10 years\u2019 treatment","volume":"10","author":"Kampmann","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.ymgme.2011.03.022","article-title":"Response of women with Fabry disease to enzyme replacement therapy: Comparison with men, using data from FOS\u2014the Fabry Outcome Survey","volume":"103","author":"Hughes","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.1093\/ndt\/gfm096","article-title":"Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease","volume":"22","author":"Pastores","year":"2007","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1111\/j.1651-2227.2010.02101.x","article-title":"Safety of agalsidase alfa in patients with Fabry disease under 7 years","volume":"100","author":"Ramaswami","year":"2010","journal-title":"Acta Paediatr."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1542\/peds.2005-2895","article-title":"Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease","volume":"118","author":"Ries","year":"2006","journal-title":"Pediatrics"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ymgme.2019.02.005","article-title":"Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan","volume":"126","author":"Sasa","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1681\/ASN.2006111263","article-title":"Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing","volume":"18","author":"Schiffmann","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/ndt\/gfi152","article-title":"Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting","volume":"21","author":"Schiffmann","year":"2006","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1186\/s13023-014-0169-6","article-title":"Agalsidase alfa in pediatric patients with Fabry disease: A 6.5-year open-label follow-up study","volume":"9","author":"Schiffmann","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1038\/gim.2013.56","article-title":"Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa","volume":"15","author":"Schiffmann","year":"2013","journal-title":"Genet. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1007\/s10545-015-9845-5","article-title":"A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease","volume":"38","author":"Schiffmann","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_58","first-page":"77","article-title":"Enzyme replacement therapy and renal function in 201 patients with Fabry disease","volume":"66","author":"Schwarting","year":"2006","journal-title":"Clin. Nephrol."},{"key":"ref_59","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (2006). Effect of enzyme replacement therapy with agalsidase alfa on renal function in patients with Fabry disease: Data from FOS\u2014The Fabry Outcome Survey. Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"773","DOI":"10.3109\/08860220903150296","article-title":"Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: A Brazilian experience","volume":"31","author":"Thofehrn","year":"2009","journal-title":"Ren. Fail."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Tsuboi, K., and Yamamoto, H. (2017). Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naive Fabry disease patients. BMC Pharmacol. Toxicol., 18.","DOI":"10.1186\/s40360-017-0152-7"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1681\/ASN.2008080870","article-title":"Agalsidase alfa and kidney dysfunction in Fabry disease","volume":"20","author":"West","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1097\/GIM.0b013e3181a23bec","article-title":"A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease","volume":"11","author":"Whybra","year":"2009","journal-title":"Genet. Med."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.amjhyper.2006.01.011","article-title":"Prevalence of uncontrolled hypertension in patients with Fabry disease","volume":"19","author":"Kleinert","year":"2006","journal-title":"Am. J. Hypertens."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1016\/S0140-6736(09)61493-8","article-title":"Enzyme replacement therapy with agalsidase alfa in patients with Fabry\u2019s disease: An analysis of registry data","volume":"374","author":"Mehta","year":"2009","journal-title":"Lancet"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1399-0004.2011.01671.x","article-title":"Fabry disease in children and response to enzyme replacement therapy: Results from the Fabry Outcome Survey","volume":"81","author":"Ramaswami","year":"2011","journal-title":"Clin. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2008.10.004","article-title":"A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease","volume":"96","author":"Benichou","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1038\/sj.ki.5000208","article-title":"Clinical benefit of enzyme replacement therapy in Fabry disease","volume":"69","author":"Breunig","year":"2006","journal-title":"Kidney Int."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"5209","DOI":"10.1093\/ndt\/gfad063d_5209","article-title":"Algalsidase-beta stabilizes renal and cardiac involvement: A follow-up study of a Brazilian Fabry disease family","volume":"38","author":"Veloso","year":"2023","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_70","first-page":"233","article-title":"Clinical outcomes in young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age","volume":"42","author":"Burlina","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"S36","DOI":"10.1016\/j.ymgme.2020.12.069","article-title":"Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy","volume":"132","author":"Tapia","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"iii363","DOI":"10.1093\/ndt\/gfaa142.P0067","article-title":"Predictors of long-term outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy","volume":"35","author":"Goicoechea","year":"2020","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"e30345","DOI":"10.1097\/MD.0000000000030345","article-title":"A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease","volume":"101","author":"Hwang","year":"2022","journal-title":"Medicine"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1097\/GIM.0b013e3181981d82","article-title":"Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease","volume":"11","author":"Lubanda","year":"2009","journal-title":"Genet. Med."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"i110","DOI":"10.1093\/ndt\/gfab080.0013","article-title":"Stabilization of kidney function decline and cardiomyopathy in male patients with classic Fabry disease: A pre-vs. post-agalsidase beta treatment Fabry Registry analysis","volume":"36","author":"Ortiz","year":"2021","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.ymgme.2019.03.010","article-title":"Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial","volume":"127","author":"Ramaswami","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1002\/ehf2.12647","article-title":"Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: A pre-treatment vs. post-treatment analysis","volume":"7","author":"Wanner","year":"2020","journal-title":"ESC Heart Fail."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1093\/ndt\/gfr420","article-title":"Renal outcomes of agalsidase beta treatment for Fabry disease: Role of proteinuria and timing of treatment initiation","volume":"27","author":"Warnock","year":"2012","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1136\/jmedgenet-2015-103471","article-title":"Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy","volume":"52","author":"Warnock","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/joim.12077","article-title":"Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: Evidence for disease progression towards serious complications","volume":"274","author":"Weidemann","year":"2013","journal-title":"J. Intern. Med."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.jpeds.2007.09.007","article-title":"Safety and efficacy of enzyme replacement therapy with agalsidase beta: An international, open-label study in pediatric patients with Fabry disease","volume":"152","author":"Wraith","year":"2008","journal-title":"J. Pediatr."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmedgenet-2014-102797","article-title":"Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease","volume":"52","author":"Germain","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1093\/ndt\/gfae069.1205","article-title":"A phase 4, open-label, multicenter prospective study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease","volume":"39","author":"Chen","year":"2024","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.nefro.2021.01.002","article-title":"Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy","volume":"41","author":"Goicoechea","year":"2021","journal-title":"Nefrologia"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.jcma.2013.11.006","article-title":"Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa","volume":"77","author":"Lin","year":"2014","journal-title":"J. Chin. Med Assoc."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"e003146","DOI":"10.1136\/bmjopen-2013-003146","article-title":"Effects of enzyme replacement therapy i for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)","volume":"3","author":"Lin","year":"2013","journal-title":"BMJ Open"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1093\/ndt\/gfy357","article-title":"Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: A longitudinal cohort study","volume":"34","author":"Madsen","year":"2019","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"WP388","DOI":"10.1161\/str.49.suppl_1.WP388","article-title":"Basilar artery diameter is associated with cerebral small vessel disease and the duration of enzyme-replacement therapy in Fabry disease","volume":"49","author":"Miwa","year":"2018","journal-title":"Stroke."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1161\/STROKEAHA.118.024426","article-title":"Effect of enzyme replacement therapy on basilar artery diameter in male patients with Fabry disease","volume":"50","author":"Miwa","year":"2019","journal-title":"Stroke"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1750-1172-8-47","article-title":"Long term enzyme replacement therapy for Fabry disease: Effectiveness on kidney, heart and brain","volume":"8","author":"Rombach","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.ymgme.2014.01.014","article-title":"Outcomes of patients treated through the Canadian Fabry disease initiative","volume":"111","author":"Sirrs","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.2215\/CJN.01820217","article-title":"Long-term dose-dependent agalsidase effects on kidney histology in Fabry disease","volume":"12","author":"Skrunes","year":"2017","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1136\/heartjnl-2014-306278","article-title":"Cardiovascular outcomes in Fabry disease are linked to severity of chronic kidney disease","volume":"101","author":"Talbot","year":"2015","journal-title":"Heart"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"107027","DOI":"10.1016\/j.ymgme.2022.107027","article-title":"Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study","volume":"138","author":"Bernat","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"100968","DOI":"10.1016\/j.gim.2023.100968","article-title":"Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease","volume":"25","author":"Hughes","year":"2023","journal-title":"Genet. Med."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"S91","DOI":"10.1016\/j.gim.2022.01.185","article-title":"eP149: Safety and efficacy of pegunigalsidase alfa, every 4 weeks, in Fabry disease: Results from the phase 3, open-label, BRIGHT study","volume":"24","author":"Bernat","year":"2022","journal-title":"Genet. Med."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1681\/ASN.20233411S1952a","article-title":"FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three years","volume":"34","author":"West","year":"2023","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of Fabry\u2019s disease with the pharmacologic chaperone migalastat","volume":"375","author":"Germain","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1038\/s41436-019-0451-z","article-title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: Data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","volume":"21","author":"Germain","year":"2019","journal-title":"Genet. Med."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.ymgme.2013.01.009","article-title":"A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects","volume":"109","author":"Giugliani","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_101","first-page":"S56","article-title":"Long-term multisystemic efficacy with migalastat in ERT-naive and ERT-experienced patients with amenable GLA variants","volume":"135","author":"Hopkin","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/s41467-021-21371-5","article-title":"Lentivirus-mediated gene therapy for Fabry disease","volume":"12","author":"Khan","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1093\/ehjcvp\/pvab025","article-title":"Treatment of Fabry disease management with migalastat\u2014outcome from a prospective 24 months observational multicenter study (FAMOUS)","volume":"8","author":"Lenders","year":"2022","journal-title":"Eur. Heart J. Cardiovasc. Pharmacother."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/cpt.1832","article-title":"Treatment of Fabry\u2019s disease with migalastat: Outcome from a prospective observational multicenter study (FAMOUS)","volume":"108","author":"Lenders","year":"2020","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_105","first-page":"S123","article-title":"A retrospective outcome analysis of chaperone therapy in Fabry disease: Clinical outcomes after the first year of therapy\u2014A single centre experience","volume":"129","author":"Orsborne","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"S104","DOI":"10.1016\/j.ymgme.2021.11.273","article-title":"Migalastat HCl 150mg every other day is well-tolerated and efficacious in adolescent patients with Fabry disease","volume":"135","author":"Ramaswami","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/jimd.12080","article-title":"Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1\/2 clinical trial","volume":"42","author":"Schiffmann","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_108","first-page":"175","article-title":"Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: Results from two randomized phase 3 studies, FACETS and ATTRACT","volume":"136","author":"Skuban","year":"2017","journal-title":"Nephron"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"107159","DOI":"10.1016\/j.ymgme.2022.107159","article-title":"FollowME Fabry Pathfinders registry: Renal effectiveness in a multi-national, multi-center cohort of patients on migalastat treatment for at least three years","volume":"138","author":"Hughes","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_110","first-page":"100786","article-title":"Long-term follow-up of renal function in patients treated with migalastat for Fabry disease","volume":"28","author":"Bichet","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"i346","DOI":"10.1093\/ndt\/gfy104.SP002","article-title":"Clinical outcomes with migalastat in patients with Fabry disease based on degree of renal impairment: Results from phase 3 trials","volume":"33","author":"Torra","year":"2018","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_112","first-page":"21","article-title":"Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis","volume":"3","author":"Beck","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1111\/j.1432-2277.2008.00824.x","article-title":"Kidney transplantation in patients with Fabry disease","volume":"22","author":"Cybulla","year":"2009","journal-title":"Transpl. Int."},{"key":"ref_114","first-page":"iii349","article-title":"Efficacy and safety of enzyme replacement therapy (ERT) in a cohort of kidney transplant recipients with Fabry disease","volume":"29","author":"Cybulla","year":"2014","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_115","first-page":"i287","article-title":"Effectiveness and safety of enzyme replacement therapy (ERT) in a cohort of kidney transplant recipients with Fabry disease","volume":"28","author":"Cybulla","year":"2013","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/j.1651-2227.2003.tb00214.x","article-title":"Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: Preliminary data","volume":"92","author":"Dehout","year":"2003","journal-title":"Acta Paediatr."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1086\/318809","article-title":"A phase 1\/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies","volume":"68","author":"Eng","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_118","first-page":"3435","article-title":"Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease","volume":"9","author":"Holida","year":"2015","journal-title":"Drug Des. Dev. Ther."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/cpt.790","article-title":"Lucerastat, an iminosugar for substrate reduction therapy: Tolerability, pharmacodynamics, and pharmacokinetics in patients with Fabry disease on enzyme replacement","volume":"103","author":"Oder","year":"2018","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_120","first-page":"439","article-title":"Menarche, menopause, and pregnancy data in untreated\/agalsidase alfa-treated females in the Fabry Outcome Survey","volume":"21","author":"Hughes","year":"2019","journal-title":"Twin Res. Hum. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/hrt.2006.104026","article-title":"Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa","volume":"94","author":"Hughes","year":"2008","journal-title":"Heart"},{"key":"ref_122","first-page":"356","article-title":"Efficacy and safety of migalastat, an oral pharmacological chaperone for Fabry disease: Renal findings from two randomized phase 3 studies (facets and attract)","volume":"5","author":"Jovanovich","year":"2017","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1093\/ndt\/gft452","article-title":"Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease","volume":"29","author":"Prabakaran","year":"2014","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"i346","DOI":"10.1093\/ndt\/gfy104.SP004","article-title":"Effects of long-term migalastat treatment on renal function by baseline proteinuria in patients (PTS) with Fabry disease","volume":"33","author":"Schiffmann","year":"2018","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_125","first-page":"39","article-title":"Safety and efficacy of pegunigalsidase alfa vs agalsidase beta on renal function in Fabry disease: 24-month results from the phase III randomized, double-blind, BALANCE study","volume":"146","author":"Wallace","year":"2022","journal-title":"Nephron"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1086\/422366","article-title":"Long-term safety and efficacy of enzyme replacement therapy for Fabry disease","volume":"75","author":"Wilcox","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1136\/jmg-2023-109445","article-title":"Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: Results from the 2-year randomised phase III BALANCE study","volume":"61","author":"Wallace","year":"2023","journal-title":"J. Med. Genet."},{"key":"ref_128","first-page":"7","article-title":"Effect and tolerability of agalsidase alfa in patients with Fabry disease who were treatment naive or formerly treated with agalsidase beta or agalsidase alfa","volume":"23","author":"Nedd","year":"2015","journal-title":"JIMD Rep."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmedgenet-2016-104178","article-title":"Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study","volume":"54","author":"Hughes","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/s10157-019-01810-w","article-title":"Efficacy and safety of migalastat in a Japanese population: A subgroup analysis of the ATTRACT study","volume":"24","author":"Narita","year":"2020","journal-title":"Clin. Exp. Nephrol."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1093\/ndt\/gfx319","article-title":"Fabry disease under enzyme replacement therapy\u2014new insights in efficacy of different dosages","volume":"33","author":"Lenders","year":"2018","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1681\/ASN.2015030337","article-title":"Patients with Fabry disease after enzyme replacement therapy dose reduction and switch-2-year follow-up","volume":"27","author":"Lenders","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1136\/jmedgenet-2020-106874","article-title":"Treatment switch in Fabry disease\u2014a matter of dose?","volume":"58","author":"Lenders","year":"2021","journal-title":"J. Med. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1093\/eurheartj\/ehy565.2355","article-title":"Treatment of cardiac manifestations in Fabry disease with the oral drug migalastat: First 12 months results from a cohort of amenable all-comers","volume":"39","author":"Muentze","year":"2018","journal-title":"Eur. Heart J."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1002\/cpt.1321","article-title":"Oral chaperone therapy migalastat for treating Fabry disease: Enzymatic response and serum biomarker changes after 1 year","volume":"105","author":"Gensler","year":"2019","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/gim.2012.39","article-title":"Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)","volume":"14","author":"Tsuboi","year":"2012","journal-title":"Genet. Med."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1038\/gim.2014.28","article-title":"Clinical course of patients with Fabry disease who were switched from agalsidase-beta to agalsidase-alpha","volume":"16","author":"Tsuboi","year":"2014","journal-title":"Genet. Med."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1681\/ASN.2013060585","article-title":"Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch","volume":"25","author":"Weidemann","year":"2014","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1186\/s13023-023-02937-6","article-title":"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","volume":"18","author":"Linhart","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1038\/s41431-020-0677-x","article-title":"Switch from enzyme replacement therapy to oral chaperone migalastat for treating Fabry disease: Real-life data","volume":"28","author":"Riccio","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1023\/B:BOLI.0000005658.14563.77","article-title":"Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study","volume":"26","author":"Baehner","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_142","first-page":"81","article-title":"Responses of females with Fabry disease to ERT: Comparison with males, using data from FOS\u2014The Fabry outcome survey","volume":"98","author":"Hughes","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1016\/j.clinthera.2009.09.008","article-title":"Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: A 12- to 36-month, retrospective, blinded echocardiographic pooled analysis","volume":"31","author":"Kampmann","year":"2009","journal-title":"Clin. Ther."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1136\/hrt.2004.054015","article-title":"Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A","volume":"92","author":"Elliott","year":"2006","journal-title":"Heart"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/s10545-006-0221-3","article-title":"The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease","volume":"29","author":"Kalliokoski","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/s11547-011-0710-9","article-title":"Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: Assessing cardiac effects of long-term enzyme replacement therapy","volume":"117","author":"Messalli","year":"2012","journal-title":"Radiol. Med."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ymgme.2012.05.011","article-title":"Enzyme replacement therapy improves cardiac features and severity of Fabry disease","volume":"107","author":"Motwani","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1053\/j.ajkd.2005.03.016","article-title":"Enzyme replacement therapy in Fabry disease patients undergoing dialysis: Effects on quality of life and organ involvement","volume":"46","author":"Pisani","year":"2005","journal-title":"Am. J. Kidney Dis."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1055\/s-0031-1281744","article-title":"Right ventricular involvement in patients with Fabry disease and the effect of enzyme replacement therapy","volume":"183","author":"Wuest","year":"2011","journal-title":"Rofo"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"107270","DOI":"10.1016\/j.ymgme.2022.107270","article-title":"Long-term effectiveness of enzyme replacement therapy in Fabry disease with the p.Arg227Ter (R227*) mutation","volume":"138","author":"Saarinen","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/jcu.23592","article-title":"Clinical study of left ventricular structure and function in patients with Anderson-Fabry disease before and after enzyme replacement therapy","volume":"52","author":"Huang","year":"2024","journal-title":"J. Clin. Ultrasound"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ymgme.2018.04.008","article-title":"The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients","volume":"124","author":"Hongo","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1093\/ejechocard\/jen129","article-title":"Anderson-Fabry disease: Long-term echocardiographic follow-up under enzyme replacement therapy","volume":"9","author":"Zuber","year":"2008","journal-title":"Eur. J. Echocardiogr."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1681\/ASN.2014121226","article-title":"Serum-mediated inhibition of enzyme replacement therapy in Fabry disease","volume":"27","author":"Lenders","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1186\/s13023-014-0111-y","article-title":"Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)","volume":"9","author":"Liu","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"e009430","DOI":"10.1161\/CIRCIMAGING.119.009430","article-title":"Myocardial storage, inflammation, and cardiac phenotype in Fabry disease after one year of enzyme replacement therapy","volume":"12","author":"Nordin","year":"2019","journal-title":"Circ. Cardiovasc. Imaging"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1136\/heartjnl-2015-308897","article-title":"The value of ECG parameters as markers of treatment response in Fabry cardiomyopathy","volume":"102","author":"Schmied","year":"2016","journal-title":"Heart"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1161\/CIRCULATIONAHA.108.794529","article-title":"Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: Evidence for a better outcome with early treatment","volume":"119","author":"Weidemann","year":"2009","journal-title":"Circulation"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1136\/jmg-2022-108768","article-title":"Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study","volume":"60","author":"Camporeale","year":"2023","journal-title":"J. Med. Genet."},{"key":"ref_160","first-page":"Abstract LBN 02","article-title":"Improvements in cardiac mass with long-term migalastat treatment in patients with Fabry disease: Results from phase 3 trials","volume":"5","author":"Jovanovic","year":"2017","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.amjcard.2014.06.019","article-title":"Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease","volume":"114","author":"Niemann","year":"2014","journal-title":"Am. J. Cardiol."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"126","DOI":"10.7150\/ijms.66448","article-title":"Fabry disease and the effectiveness of enzyme replacement therapy (ERT) in left ventricular hypertrophy (LVH) improvement: A review and meta-analysis","volume":"19","author":"Lee","year":"2022","journal-title":"Int. J. Med Sci."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1093\/ndt\/gfm813","article-title":"Agalsidase therapy in patients with Fabry disease on renal replacement therapy: A nationwide study in Italy","volume":"23","author":"Mignani","year":"2008","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"K219","DOI":"10.1093\/eurheartjsupp\/suac121.617","article-title":"Effects of enzyme replacement therapy on CMR parameters in patients with Fabry disease: A systematic review and meta-analysis","volume":"24","author":"Figliozzi","year":"2022","journal-title":"Eur. Heart. J. Suppl."},{"key":"ref_165","doi-asserted-by":"crossref","unstructured":"Pogoda, C., Brand, S.-M., Duning, T., Schmidt-Pogoda, A., Sindermann, J., Lenders, M., and Brand, E. (2023). Impact of enzyme replacement therapy and migalastat on left atrial strain and cardiomyopathy in patients with Fabry disease. Front. Cardiovasc. Med., 10.","DOI":"10.3389\/fcvm.2023.1223635"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/gim.2013.53","article-title":"Analysis of left ventricular mass in untreated men and in men treated with agalsidase-beta: Data from the Fabry Registry","volume":"15","author":"Germain","year":"2013","journal-title":"Genet. Med."},{"key":"ref_167","doi-asserted-by":"crossref","unstructured":"Veldman, B.C.F., Schoenmakers, D.H., van Dussen, L., Datema, M.R., and Langeveld, M. (2024). Establishing treatment effectiveness in Fabry disease: Observation-based recommendations for improvement. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25179752"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1136\/hrt.2008.162800","article-title":"Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: A prospective long-term cardiac magnetic resonance imaging study","volume":"95","author":"Imbriaco","year":"2009","journal-title":"Heart"},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1136\/hrt.2010.204586","article-title":"The right ventricle in Fabry disease: Natural history and impact of enzyme replacement therapy","volume":"96","author":"Niemann","year":"2010","journal-title":"Heart"},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1161\/01.CIR.0000091253.71282.04","article-title":"Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study","volume":"108","author":"Weidemann","year":"2003","journal-title":"Circulation"},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1590\/S0004-282X2006000500002","article-title":"White matter lesions in Fabry disease before and after enzyme replacement therapy: A 2-year follow-up","volume":"64","author":"Jardim","year":"2006","journal-title":"Arq. Neuro-Psiquiatria"},{"key":"ref_172","doi-asserted-by":"crossref","unstructured":"Lee, H.-J., Hsu, T.-R., Hung, S.-C., Yu, W.-C., Chu, T.-H., Yang, C.-F., Bizjajeva, S., Tiu, C.-M., and Niu, D.-M. (2017). A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4 + 919G > A mutation. BMC Neurol., 17.","DOI":"10.1186\/s12883-017-0810-9"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.ymgme.2018.08.014","article-title":"Development and clinical consequences of white matter lesions in Fabry disease: A systematic review","volume":"125","author":"Korver","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1136\/jnnp-2019-322268","article-title":"Determinants of cerebral radiological progression in Fabry disease","volume":"91","author":"Korver","year":"2020","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"S103","DOI":"10.1016\/j.ymgme.2019.11.263","article-title":"Survey assessing the prevalence and severity of neuropsychiatric manifestations in patients living with Fabry disease","volume":"129","author":"Lulla","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_176","first-page":"233","article-title":"Occurrence of cerebrovascular events during long-term treatment with migalastat in patients with Fabry disease","volume":"42","author":"Shankar","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"Agalsidase-beta therapy for advanced Fabry disease: A randomized trial","volume":"146","author":"Banikazemi","year":"2007","journal-title":"Ann. Intern. Med."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1159\/000369293","article-title":"Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease","volume":"38","author":"Fellgiebel","year":"2014","journal-title":"Cerebrovasc. Dis."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1212\/WNL.0000000000001333","article-title":"Thromboembolic events in Fabry disease and the impact of factor v Leiden","volume":"84","author":"Lenders","year":"2015","journal-title":"Neurology"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-0004.2004.00219.x","article-title":"The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy","volume":"65","author":"Whybra","year":"2004","journal-title":"Clin. Genet."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1111\/j.1399-0004.2008.01012.x","article-title":"Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: Testing the effects with the Mainz Severity Score Index","volume":"74","author":"Parini","year":"2008","journal-title":"Clin. Genet."},{"key":"ref_182","first-page":"85","article-title":"Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group","volume":"12","author":"Concolino","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_183","doi-asserted-by":"crossref","unstructured":"Biegstraaten, M., van Schaik, I.N., Wieling, W., Wijburg, F.A., and Hollak, C.E. (2010). Autonomic neuropathy in Fabry disease: A prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests. BMC Neurol., 10.","DOI":"10.1186\/1471-2377-10-38"},{"key":"ref_184","first-page":"1221.e1221","article-title":"Evaluation of proinflammatory prognostic biomarkers for Fabry cardiomyopathy with enzyme replacement therapy","volume":"32","author":"Chen","year":"2016","journal-title":"Can. J. Cardiol."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"e2643","DOI":"10.6061\/clinics\/2021\/e2643","article-title":"Increased serum interleukin-6 and tumor necrosis factor alpha levels in Fabry disease: Correlation with disease burden","volume":"76","author":"Neto","year":"2021","journal-title":"Clinics"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.bbrc.2017.03.030","article-title":"Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy","volume":"486","author":"Chen","year":"2017","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_187","first-page":"173","article-title":"Cambio de agalsidasa beta por agalsidasa alfa en la terapia de reemplazo enzimatica de pacientes con enfermedad de Fabry en Latinoamerica","volume":"77","author":"Ripeau","year":"2017","journal-title":"Medicina"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1136\/heartjnl-2023-322712","article-title":"Disease-specific therapy for the treatment of the cardiovascular manifestations of Fabry disease: A systematic review","volume":"110","author":"Orsborne","year":"2023","journal-title":"Heart"},{"key":"ref_189","first-page":"e37048","article-title":"Fabry disease and its management: A literature analysis","volume":"15","author":"Besekar","year":"2023","journal-title":"Cureus"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/cge.14266","article-title":"New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage","volume":"103","author":"Riccio","year":"2023","journal-title":"Clin. Genet."},{"key":"ref_191","first-page":"100976","article-title":"Medication adherence in Fabry patients treated with migalastat: Real world experience","volume":"35","author":"Riccio","year":"2023","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_192","first-page":"101215","article-title":"Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy","volume":"43","author":"Ramaswami","year":"2025","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/mt.2009.220","article-title":"The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease","volume":"18","author":"Khanna","year":"2010","journal-title":"Mol. Ther."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.ymgme.2024.108669","article-title":"Reduced incidence of stroke in patients with Fabry disease treated with agalsidase beta: A matched analysis from the Fabry Registry","volume":"144","author":"Burlina","year":"2025","journal-title":"Mol. Genet. Metab."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.2147\/DDDT.S365885","article-title":"Updated evaluation of agalsidase alfa enzyme replacement therapy for patients with Fabry disease: Insights from real-world data","volume":"18","author":"Feriozzi","year":"2024","journal-title":"Drug Des. Dev. Ther."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"sfae194","DOI":"10.1093\/ckj\/sfae194","article-title":"Reduction in kidney function decline and risk of severe clinical events in agalsidase beta-treated Fabry disease patients: A matched analysis from the Fabry Registry","volume":"17","author":"Batista","year":"2024","journal-title":"Clin. Kidney J."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1002\/jimd.12773","article-title":"Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis","volume":"47","author":"Pisani","year":"2024","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13023-025-03600-y","article-title":"Impact of enzyme replacement therapy and migalastat on disease progression in females with Fabry disease","volume":"20","author":"Lenders","year":"2025","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"e12771","DOI":"10.1002\/jimd.12771","article-title":"Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry","volume":"48","author":"Hughes","year":"2025","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"109102","DOI":"10.1016\/j.ymgme.2025.109102","article-title":"Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension","volume":"145","author":"Ramaswami","year":"2025","journal-title":"Mol. Genet. Metab."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"108561","DOI":"10.1016\/j.ymgme.2024.108561","article-title":"Clinical outcomes in elderly patients receiving agalsidase alfa treatment in the Fabry Outcome Survey","volume":"143","author":"Nowak","year":"2024","journal-title":"Mol. Genet. Metab."},{"key":"ref_202","first-page":"101122","article-title":"Long-term safety of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing extension surveillance in Japan","volume":"40","author":"Arakawa","year":"2024","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1186\/s13023-024-03441-1","article-title":"Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: A Chinese monocentric real-world study","volume":"19","author":"Liu","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"e12795","DOI":"10.1002\/jimd.12795","article-title":"A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies","volume":"48","author":"Holida","year":"2025","journal-title":"J. Inherit. Metab. 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