{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T05:26:15Z","timestamp":1774761975200,"version":"3.50.1"},"reference-count":65,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T00:00:00Z","timestamp":1722902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T00:00:00Z","timestamp":1722902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Innere Medizin"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1007\/s00108-024-01741-z","type":"journal-article","created":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T11:02:56Z","timestamp":1722942176000},"page":"1188-1198","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Was ist gesichert in der Therapie von Morbus Fabry?","What is confirmed in the treatment of Fabry\u02bcs disease?"],"prefix":"10.1007","volume":"65","author":[{"given":"Malte","family":"Lenders","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Brand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,8,6]]},"reference":[{"issue":"9647","key":"1741_CR1","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","volume":"372","author":"YA Zarate","year":"2008","unstructured":"Zarate\u00a0YA, Hopkin\u00a0RJ (2008) Fabry\u2019s disease. Lancet 372(9647):1427\u20131435","journal-title":"Lancet"},{"issue":"1","key":"1741_CR2","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1086\/504601","volume":"79","author":"M Spada","year":"2006","unstructured":"Spada\u00a0M et\u00a0al (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79(1):31\u201340","journal-title":"Am J Hum Genet"},{"issue":"2","key":"1741_CR3","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","volume":"30","author":"CM Eng","year":"2007","unstructured":"Eng\u00a0CM et\u00a0al (2007) Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry. J\u00a0Inherit Metab Dis 30(2):184\u2013192","journal-title":"J Inherit Metab Dis"},{"issue":"16","key":"1741_CR4","doi-asserted-by":"publisher","first-page":"1395","DOI":"10.1093\/eurheartj\/ehae148","volume":"45","author":"M Pieroni","year":"2024","unstructured":"Pieroni\u00a0M et\u00a0al (2024) Anderson-Fabry disease management: role of the cardiologist. Eur Heart\u00a0J 45(16):1395\u20131409","journal-title":"Eur Heart J"},{"issue":"1","key":"1741_CR5","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1111\/cge.12613","volume":"89","author":"L Echevarria","year":"2016","unstructured":"Echevarria\u00a0L et\u00a0al (2016) X\u2011chromosome inactivation in female patients with Fabry disease. Clin Genet 89(1):44\u201354","journal-title":"Clin Genet"},{"issue":"5","key":"1741_CR6","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards\u00a0S et\u00a0al (2015) Standards and guidelines for the interpretation of sequence variants: a\u00a0joint consensus recommendation of the American College of Medical Genetics and Genomics and the association for molecular pathology. Genet Med 17(5):405\u2013424","journal-title":"Genet Med"},{"issue":"9","key":"1741_CR7","doi-asserted-by":"publisher","first-page":"604","DOI":"10.7326\/0003-4819-150-9-200905050-00006","volume":"150","author":"AS Levey","year":"2009","unstructured":"Levey\u00a0AS et\u00a0al (2009) A new equation to estimate glomerular filtration rate. Ann Intern Med 150(9):604\u2013612","journal-title":"Ann Intern Med"},{"issue":"3","key":"1741_CR8","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1681\/ASN.2008030287","volume":"20","author":"GJ Schwartz","year":"2009","unstructured":"Schwartz\u00a0GJ et\u00a0al (2009) New equations to estimate GFR in children with CKD. J\u00a0Am Soc Nephrol 20(3):629\u2013637","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"1741_CR9","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1016\/j.amjhyper.2006.01.011","volume":"19","author":"J Kleinert","year":"2006","unstructured":"Kleinert\u00a0J et\u00a0al (2006) Prevalence of uncontrolled hypertension in patients with Fabry disease. Am J Hypertens 19(8):782\u2013787","journal-title":"Am J Hypertens"},{"issue":"11","key":"1741_CR10","doi-asserted-by":"publisher","first-page":"e0140627","DOI":"10.1371\/journal.pone.0140627","volume":"10","author":"J Kr\u00e4mer","year":"2015","unstructured":"Kr\u00e4mer\u00a0J et\u00a0al (2015) Left ventricular geometry and blood pressure as predictors of adverse progression of Fabry cardiomyopathy. PLoS ONE 10(11):e140627","journal-title":"PLoS ONE"},{"issue":"2","key":"1741_CR11","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1002\/cpt.1832","volume":"108","author":"M Lenders","year":"2020","unstructured":"Lenders\u00a0M et\u00a0al (2020) Treatment of Fabry disease with migalastat\u2014outcome from a prospective observational multicenter study (FAMOUS). Clin Pharmacol Ther 108(2):326\u2013337","journal-title":"Clin Pharmacol Ther"},{"issue":"7","key":"1741_CR12","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1002\/ejhf.1960","volume":"22","author":"A Linhart","year":"2020","unstructured":"Linhart\u00a0A et\u00a0al (2020) An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail 22(7):1076\u20131096","journal-title":"Eur J Heart Fail"},{"key":"1741_CR13","volume-title":"Leitlinien f\u00fcr Diagnostik und Therapie in der Neurologie","author":"N \u00dc\u00e7eyler","year":"2022","unstructured":"\u00dc\u00e7eyler\u00a0N et\u00a0al (2022) Diagnose und Therapie des Morbus Fabry, S1-Leitlinie, 2022. In: Deutsche Gesellschaft f\u00fcr Neurologie (Hrsg) Leitlinien f\u00fcr Diagnostik und Therapie in der Neurologie (04.06.2024)"},{"issue":"7","key":"1741_CR14","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1016\/j.jacc.2020.12.024","volume":"77","author":"M Pieroni","year":"2021","unstructured":"Pieroni\u00a0M et\u00a0al (2021) Cardiac involvement in Fabry disease: JACC review topic of the week. J\u00a0Am Coll Cardiol 77(7):922\u2013936","journal-title":"J Am Coll Cardiol"},{"issue":"11","key":"1741_CR15","doi-asserted-by":"publisher","first-page":"2301","DOI":"10.1016\/j.pain.2014.08.024","volume":"155","author":"N \u00dc\u00e7eyler","year":"2014","unstructured":"\u00dc\u00e7eyler\u00a0N et\u00a0al (2014) A comprehensive Fabry-related pain questionnaire for adult patients. Pain 155(11):2301\u20132305","journal-title":"Pain"},{"issue":"4","key":"1741_CR16","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1038\/gim.2016.122","volume":"19","author":"ER Benjamin","year":"2017","unstructured":"Benjamin\u00a0ER et\u00a0al (2017) The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genet Med 19(4):430\u2013438","journal-title":"Genet Med"},{"key":"1741_CR17","unstructured":"https:\/\/www.g-ba.de\/bewertungsverfahren\/nutzenbewertung\/1001\/"},{"key":"1741_CR18","unstructured":"https:\/\/www.g-ba.de\/bewertungsverfahren\/nutzenbewertung\/987\/"},{"issue":"3","key":"1741_CR19","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.ymgme.2018.06.004","volume":"124","author":"C Wanner","year":"2018","unstructured":"Wanner\u00a0C et\u00a0al (2018) European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab 124(3):189\u2013203","journal-title":"Mol Genet Metab"},{"issue":"4","key":"1741_CR20","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","volume":"123","author":"A Ortiz","year":"2018","unstructured":"Ortiz\u00a0A et\u00a0al (2018) Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab 123(4):416\u2013427","journal-title":"Mol Genet Metab"},{"issue":"5","key":"1741_CR21","doi-asserted-by":"publisher","first-page":"1630","DOI":"10.1021\/acs.bioconjchem.8b00133","volume":"29","author":"I Ruderfer","year":"2018","unstructured":"Ruderfer\u00a0I et\u00a0al (2018) Development and analytical characterization of pegunigalsidase alfa, a\u00a0chemically cross-linked plant recombinant human \u03b1\u2011galactosidase\u2011A for treatment of Fabry disease. Bioconjug Chem 29(5):1630\u20131639","journal-title":"Bioconjug Chem"},{"key":"1741_CR22","doi-asserted-by":"publisher","first-page":"1395287","DOI":"10.3389\/fgene.2024.1395287","volume":"15","author":"DP Germain","year":"2024","unstructured":"Germain\u00a0DP, Linhart\u00a0A (2024) Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease. Front Genet 15:1395287","journal-title":"Front Genet"},{"issue":"6","key":"1741_CR23","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1136\/jmg-2023-109445","volume":"61","author":"EL Wallace","year":"2024","unstructured":"Wallace\u00a0EL et\u00a0al (2024) Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2\u2011year randomised phase\u00a0III BALANCE study. J\u00a0Med Genet 61(6):520\u2013530","journal-title":"J Med Genet"},{"key":"1741_CR24","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1186\/s13023-015-0338-2","volume":"10","author":"C Kampmann","year":"2015","unstructured":"Kampmann\u00a0C, Perrin\u00a0A, Beck\u00a0M (2015) Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years\u2019 treatment. Orphanet J Rare Dis 10:125","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"1741_CR25","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1136\/jmedgenet-2014-102797","volume":"52","author":"DP Germain","year":"2015","unstructured":"Germain\u00a0DP et\u00a0al (2015) Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J\u00a0Med Genet 52(5):353\u2013358","journal-title":"J Med Genet"},{"issue":"6","key":"1741_CR26","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1007\/s10545-015-9845-5","volume":"38","author":"R Schiffmann","year":"2015","unstructured":"Schiffmann\u00a0R et\u00a0al (2015) A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease. J\u00a0Inherit Metab Dis 38(6):1129\u20131136","journal-title":"J Inherit Metab Dis"},{"issue":"9","key":"1741_CR27","doi-asserted-by":"publisher","first-page":"2265","DOI":"10.1681\/ASN.2018030329","volume":"29","author":"M Lenders","year":"2018","unstructured":"Lenders\u00a0M, Brand\u00a0E (2018) Effects of enzyme replacement therapy and antidrug antibodies in patients with Fabry disease. J\u00a0Am Soc Nephrol 29(9):2265\u20132278","journal-title":"J Am Soc Nephrol"},{"issue":"1","key":"1741_CR28","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1186\/s13023-016-0473-4","volume":"11","author":"M Lenders","year":"2016","unstructured":"Lenders\u00a0M et\u00a0al (2016) Multicenter Female Fabry Study (MFFS)\u2014clinical survey on current treatment of females with Fabry disease. Orphanet J Rare Dis 11(1):88","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"1741_CR29","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1016\/j.ymgme.2018.09.007","volume":"126","author":"DP Germain","year":"2019","unstructured":"Germain\u00a0DP et\u00a0al (2019) The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease\u2014a systematic literature review by a\u00a0European panel of experts. Mol Genet Metab 126(3):224\u2013235","journal-title":"Mol Genet Metab"},{"issue":"1","key":"1741_CR30","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1681\/ASN.2012030316","volume":"24","author":"C T\u00f8ndel","year":"2013","unstructured":"T\u00f8ndel\u00a0C et\u00a0al (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J\u00a0Am Soc Nephrol 24(1):137\u2013148","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"1741_CR31","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1681\/ASN.2013060585","volume":"25","author":"F Weidemann","year":"2014","unstructured":"Weidemann\u00a0F et\u00a0al (2014) Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch. J\u00a0Am Soc Nephrol 25(4):837\u2013849","journal-title":"J Am Soc Nephrol"},{"issue":"3","key":"1741_CR32","doi-asserted-by":"publisher","first-page":"952","DOI":"10.1681\/ASN.2015030337","volume":"27","author":"M Lenders","year":"2016","unstructured":"Lenders\u00a0M et\u00a0al (2016) Patients with fabry disease after enzyme replacement therapy dose reduction and switch\u20142-year follow-up. J\u00a0Am Soc Nephrol 27(3):952\u2013962","journal-title":"J Am Soc Nephrol"},{"issue":"5","key":"1741_CR33","first-page":"807","volume":"32","author":"R Skrunes","year":"2017","unstructured":"Skrunes\u00a0R et\u00a0al (2017) Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients. Nephrol Dial Transplant 32(5):807\u2013813","journal-title":"Nephrol Dial Transplant"},{"issue":"8","key":"1741_CR34","doi-asserted-by":"publisher","first-page":"1362","DOI":"10.1093\/ndt\/gfx319","volume":"33","author":"J Kr\u00e4mer","year":"2018","unstructured":"Kr\u00e4mer\u00a0J et\u00a0al (2018) Fabry disease under enzyme replacement therapy\u2014new insights in efficacy of different dosages. Nephrol Dial Transplant 33(8):1362\u20131372","journal-title":"Nephrol Dial Transplant"},{"issue":"4","key":"1741_CR35","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1016\/j.ymgme.2022.10.005","volume":"137","author":"C T\u00f8ndel","year":"2022","unstructured":"T\u00f8ndel\u00a0C et\u00a0al (2022) Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues. Mol Genet Metab 137(4):328\u2013341","journal-title":"Mol Genet Metab"},{"issue":"1","key":"1741_CR36","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1681\/ASN.2014121226","volume":"27","author":"M Lenders","year":"2016","unstructured":"Lenders\u00a0M et\u00a0al (2016) Serum-mediated inhibition of enzyme replacement therapy in Fabry disease. J\u00a0Am Soc Nephrol 27(1):256\u2013264","journal-title":"J Am Soc Nephrol"},{"issue":"6","key":"1741_CR37","doi-asserted-by":"publisher","first-page":"2289","DOI":"10.1016\/j.jaci.2017.12.1001","volume":"141","author":"M Lenders","year":"2018","unstructured":"Lenders\u00a0M et\u00a0al (2018) Characterization of drug-neutralizing antibodies in patients with Fabry disease during infusion. J\u00a0Allergy Clin Immunol 141(6):2289\u20132292","journal-title":"J Allergy Clin Immunol"},{"issue":"2","key":"1741_CR38","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1002\/jimd.12176","volume":"43","author":"F Stappers","year":"2020","unstructured":"Stappers\u00a0F et\u00a0al (2020) Neutralising anti-drug antibodies in Fabry disease can inhibit endothelial enzyme uptake and activity. J\u00a0Inherit Metab Dis 43(2):334\u2013347","journal-title":"J Inherit Metab Dis"},{"issue":"12","key":"1741_CR39","doi-asserted-by":"publisher","first-page":"2879","DOI":"10.1681\/ASN.2018070740","volume":"29","author":"M Lenders","year":"2018","unstructured":"Lenders\u00a0M et\u00a0al (2018) Dose-dependent effect of enzyme replacement therapy on neutralizing antidrug antibody titers and clinical outcome in patients with Fabry disease. J\u00a0Am Soc Nephrol 29(12):2879\u20132889","journal-title":"J Am Soc Nephrol"},{"issue":"26","key":"1741_CR40","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/j.omtm.2022.07.009","volume":"2022","author":"M Lenders","year":"2022","unstructured":"Lenders\u00a0M et\u00a0al (2022) Pre-existing anti-drug antibodies in Fabry disease show less affinity for pegunigalsidase alfa. Mol Ther Methods Clin Dev 2022(26):323\u2013330","journal-title":"Mol Ther Methods Clin Dev"},{"key":"1741_CR41","doi-asserted-by":"publisher","first-page":"E11","DOI":"10.1542\/peds.100.6.e11","volume":"100","author":"RO Brady","year":"1997","unstructured":"Brady\u00a0RO et\u00a0al (1997) Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease. Pediatrics 100:E11","journal-title":"Pediatrics"},{"issue":"16","key":"1741_CR42","doi-asserted-by":"publisher","first-page":"e94328","DOI":"10.1172\/jci.insight.94328","volume":"2","author":"ZB Kazi","year":"2017","unstructured":"Kazi\u00a0ZB et\u00a0al (2017) Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. JCI Insight 2(16):e94328","journal-title":"JCI Insight"},{"issue":"3","key":"1741_CR43","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1111\/joim.12647","volume":"282","author":"M Lenders","year":"2017","unstructured":"Lenders\u00a0M et\u00a0al (2017) Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. J\u00a0Intern Med 282(3):241\u2013253","journal-title":"J Intern Med"},{"issue":"5","key":"1741_CR44","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1007\/s40265-019-01090-4","volume":"79","author":"EH McCafferty","year":"2019","unstructured":"McCafferty\u00a0EH, Scott\u00a0LJ (2019) Migalastat: A review in Fabry disease. Drugs 79(5):543\u2013554","journal-title":"Drugs"},{"key":"1741_CR45","first-page":"100786","volume":"28","author":"DG Bichet","year":"2021","unstructured":"Bichet\u00a0DG et\u00a0al (2021) Long-term follow-up of renal function in patients treated with migalastat for Fabry disease. Mol Genet Metab Rep 28:100786","journal-title":"Mol Genet Metab Rep"},{"issue":"7","key":"1741_CR46","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1136\/jmg-2022-108669","volume":"60","author":"DA Hughes","year":"2023","unstructured":"Hughes\u00a0DA et\u00a0al (2023) Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes. J\u00a0Med Genet 60(7):722\u2013731","journal-title":"J Med Genet"},{"issue":"8","key":"1741_CR47","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1136\/jmedgenet-2019-106005","volume":"56","author":"M Lenders","year":"2019","unstructured":"Lenders\u00a0M et\u00a0al (2019) Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. J\u00a0Med Genet 56(8):548\u2013556","journal-title":"J Med Genet"},{"issue":"5","key":"1741_CR48","doi-asserted-by":"publisher","first-page":"1224","DOI":"10.1002\/cpt.1321","volume":"105","author":"J M\u00fcntze","year":"2019","unstructured":"M\u00fcntze\u00a0J et\u00a0al (2019) Oral chaperone therapy migalastat for treating Fabry disease: enzymatic response and serum biomarker changes after 1\u00a0year. Clin Pharmacol Ther 105(5):1224\u20131233","journal-title":"Clin Pharmacol Ther"},{"issue":"3","key":"1741_CR49","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1093\/ndt\/gfr420","volume":"27","author":"DG Warnock","year":"2012","unstructured":"Warnock\u00a0DG et\u00a0al (2012) Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 27(3):1042\u20131049","journal-title":"Nephrol Dial Transplant"},{"issue":"12","key":"1741_CR50","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1136\/jmedgenet-2015-103471","volume":"52","author":"DG Warnock","year":"2015","unstructured":"Warnock\u00a0DG et\u00a0al (2015) Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy. J\u00a0Med Genet 52(12):860\u2013866","journal-title":"J Med Genet"},{"issue":"3","key":"1741_CR51","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1038\/ki.1997.394","volume":"52","author":"JM De\u2019Oliveira","year":"1997","unstructured":"De\u2019Oliveira\u00a0JM et\u00a0al (1997) Autonomy of the renin system in type\u00a0II diabetes mellitus: dietary sodium and renal hemodynamic responses to ACE inhibition. Kidney Int 52(3):771\u2013777","journal-title":"Kidney Int"},{"issue":"1","key":"1741_CR52","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1681\/ASN.2011040430","volume":"23","author":"S Vegter","year":"2012","unstructured":"Vegter\u00a0S et\u00a0al (2012) Sodium intake, ACE inhibition, and progression to ESRD. J\u00a0Am Soc Nephrol 23(1):165\u2013173","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"1741_CR53","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/j.ekir.2019.11.013","volume":"5","author":"A Felis","year":"2019","unstructured":"Felis\u00a0A et\u00a0al (2019) Current and investigational therapeutics for Fabry disease. Kidney Int Rep 5(4):407\u2013413","journal-title":"Kidney Int Rep"},{"issue":"4S","key":"1741_CR54","first-page":"S117","volume":"105","author":"Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group","year":"2024","unstructured":"Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group (2024) KDIGO 2024 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int 105(4S):S117\u2013S314","journal-title":"Kidney Int"},{"issue":"11","key":"1741_CR55","doi-asserted-by":"publisher","first-page":"3689","DOI":"10.3390\/jcm12113689","volume":"12","author":"Y Battaglia","year":"2023","unstructured":"Battaglia\u00a0Y et\u00a0al (2023) Dapaglifozin on albuminuria in chronic kidney disease patients with FabrY disease: the DEFY study design and protocol. J\u00a0Clin Med 12(11):3689","journal-title":"J Clin Med"},{"key":"1741_CR56","volume-title":"Leitlinien f\u00fcr Diagnostik und Therapie in der Neurologie","author":"T Schlereth","year":"2019","unstructured":"Schlereth\u00a0T et\u00a0al (2019) Diagnose und nicht interventionelle Therapie neuropathischer Schmerzen, S2k-Leitlinie. In: Deutsche Gesellschaft f\u00fcr Neurologie (Hrsg) Leitlinien f\u00fcr Diagnostik und Therapie in der Neurologie (07.06.2024)"},{"issue":"41","key":"1741_CR57","doi-asserted-by":"publisher","first-page":"1874","DOI":"10.1097\/HJH.0000000000003480","volume":"2023","author":"Mancia","year":"2023","unstructured":"Mancia et\u00a0al (2023) J\u00a0Hypertens 2023(41):1874\u20132071","journal-title":"J Hypertens"},{"issue":"6","key":"1741_CR58","first-page":"440","volume":"43","author":"McDonagh","year":"2023","unstructured":"McDonagh et\u00a0al (2023) Eur Heart\u00a0J 43(6):440\u2013441","journal-title":"Eur Heart J"},{"issue":"12","key":"1741_CR59","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1055\/a-1591-4794","volume":"59","author":"Layer","year":"2021","unstructured":"Layer et\u00a0al (2021) Z\u00a0Gastroenterol 59(12):1323\u20131415","journal-title":"Z Gastroenterol"},{"issue":"1","key":"1741_CR60","doi-asserted-by":"publisher","first-page":"389","DOI":"10.2119\/molmed.2015.00088","volume":"21","author":"KM Ashe","year":"2015","unstructured":"Ashe\u00a0KM et\u00a0al (2015) Efficacy of enzyme and substrate reduction therapy with a\u00a0novel antagonist of glucosylceramide synthase for Fabry disease. Mol Med 21(1):389\u2013399","journal-title":"Mol Med"},{"issue":"4","key":"1741_CR61","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1002\/cpt.790","volume":"103","author":"N Gu\u00e9rard","year":"2018","unstructured":"Gu\u00e9rard\u00a0N et\u00a0al (2018) Lucerastat, an iminosugar for substrate reduction therapy: tolerability, pharmacodynamics, and pharmacokinetics in patients with Fabry disease on enzyme replacement. Clin Pharmacol Ther 103(4):703\u2013711","journal-title":"Clin Pharmacol Ther"},{"key":"1741_CR62","first-page":"100862","volume":"31","author":"C Wanner","year":"2022","unstructured":"Wanner\u00a0C et\u00a0al (2022) Understanding and modifying fabry disease: rationale and design of a\u00a0pivotal phase\u00a03\u00a0study and results from a\u00a0patient-reported outcome validation study. Mol Genet Metab Rep 31:100862","journal-title":"Mol Genet Metab Rep"},{"issue":"1","key":"1741_CR63","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1002\/cpdd.865","volume":"10","author":"MJ Peterschmitt","year":"2021","unstructured":"Peterschmitt\u00a0MJ et\u00a0al (2021) Pharmacokinetics, pharmacodynamics, safety, and tolerability of oral venglustat in healthy volunteers. Clin Pharmacol Drug Dev 10(1):86\u201398","journal-title":"Clin Pharmacol Drug Dev"},{"issue":"2","key":"1741_CR64","doi-asserted-by":"publisher","first-page":"106963","DOI":"10.1016\/j.ymgme.2022.11.002","volume":"138","author":"PB Deegan","year":"2023","unstructured":"Deegan\u00a0PB et\u00a0al (2023) Venglustat, an orally administered glucosylceramide synthase inhibitor: assessment over 3\u00a0years in adult males with classic Fabry disease in an open-label phase\u00a02\u00a0study and its extension study. Mol Genet Metab 138(2):106963","journal-title":"Mol Genet Metab"},{"issue":"1","key":"1741_CR65","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1038\/s41467-021-21371-5","volume":"12","author":"A Khan","year":"2021","unstructured":"Khan\u00a0A et\u00a0al (2021) Lentivirus-mediated gene therapy for fabry disease. Nat Commun 12(1):1178","journal-title":"Nat Commun"}],"container-title":["Die Innere Medizin"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-024-01741-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00108-024-01741-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-024-01741-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T22:03:04Z","timestamp":1733868184000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00108-024-01741-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,6]]},"references-count":65,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["1741"],"URL":"https:\/\/doi.org\/10.1007\/s00108-024-01741-z","relation":{},"ISSN":["2731-7080","2731-7099"],"issn-type":[{"value":"2731-7080","type":"print"},{"value":"2731-7099","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,6]]},"assertion":[{"value":"17 June 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2024","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"M.\u00a0Lenders erhielt Forschungszusch\u00fcsse und\/oder Vortragshonorare von Amicus Therapeutics, Sanofi, Chiesi, Sumitomo Pharma und Takeda. E.\u00a0Brand erhielt Forschungszusch\u00fcsse und\/oder Vortragshonorare von Amicus Therapeutics, Sanofi, Chiesi, Takeda und Eleva.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autor\/-innen keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}