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Page 1
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.
Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer SD, Haas F, Wong MN, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting SW, Muntau AC, Kretz O, Hahn O, Rinschen MM, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti HP, Najafian B, Puelles VG, Schell C, Huber TB. Braun F, et al. Among authors: mauer m. J Clin Invest. 2023 Jun 1;133(11):e157782. doi: 10.1172/JCI157782. J Clin Invest. 2023. PMID: 37014703 Free PMC article.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Hopkin RJ, Cabrera GH, Jefferies JL, Yang M, Ponce E, Brand E, Feldt-Rasmussen U, Germain DP, Guffon N, Jovanovic A, Kantola I, Karaa A, Martins AM, Tøndel C, Wilcox WR, Yoo HW, Burlina AP, Mauer M. Hopkin RJ, et al. Among authors: mauer m. Mol Genet Metab. 2023 Feb;138(2):106967. doi: 10.1016/j.ymgme.2022.106967. Epub 2022 Nov 30. Mol Genet Metab. 2023. PMID: 36709533 Free article.
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Deegan PB, Goker-Alpan O, Geberhiwot T, Hopkin RJ, Lukina E, Tylki-Szymanska A, Zaher A, Sensinger C, Gaemers SJM, Modur V, Thurberg BL, Sharma J, Najafian B, Mauer M, DasMahapatra P, Wilcox WR, Germain DP. Deegan PB, et al. Among authors: mauer m. Mol Genet Metab. 2023 Feb;138(2):106963. doi: 10.1016/j.ymgme.2022.11.002. Epub 2022 Nov 9. Mol Genet Metab. 2023. PMID: 36481125 Free PMC article. Clinical Trial.
Discordance Between Creatinine-Based and Cystatin C-Based Estimated GFR: Interpretation According to Performance Compared to Measured GFR.
Wang Y, Adingwupu OM, Shlipak MG, Doria A, Estrella MM, Froissart M, Gudnason V, Grubb A, Kalil R, Mauer M, Rossing P, Seegmiller J, Coresh J, Levey AS, Inker LA. Wang Y, et al. Among authors: mauer m. Kidney Med. 2023 Aug 9;5(10):100710. doi: 10.1016/j.xkme.2023.100710. eCollection 2023 Oct. Kidney Med. 2023. PMID: 37753251 Free PMC article.
Performance of GFR Estimating Equations in Young Adults.
Inker LA, Tighiouart H, Adingwupu OM, Ng DK, Estrella MM, Maahs D, Yang W, Froissart M, Mauer M, Kalil R, Torres V, de Borst M, Klintmalm G, Poggio ED, Seegmiller JC, Rossing P, Furth SL, Warady BA, Schwartz GJ, Velez R, Coresh J, Levey AS. Inker LA, et al. Among authors: mauer m. Am J Kidney Dis. 2024 Feb;83(2):272-276. doi: 10.1053/j.ajkd.2023.06.008. Epub 2023 Sep 17. Am J Kidney Dis. 2024. PMID: 37717845 Free PMC article. No abstract available.
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.
Wanner C, Ortiz A, Wilcox WR, Hopkin RJ, Johnson J, Ponce E, Ebels JT, Batista JL, Maski M, Politei JM, Martins AM, Banikazemi M, Linhart A, Mauer M, Oliveira JP, Weidemann F, Germain DP. Wanner C, et al. Among authors: mauer m. Mol Genet Metab. 2023 Jul;139(3):107603. doi: 10.1016/j.ymgme.2023.107603. Epub 2023 Apr 29. Mol Genet Metab. 2023. PMID: 37236007 Free article. Review.
316 results