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• The unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient.

  Elsherif Y, Ibrahim IA, Elsherif O, Abukhadijah HJ. Elsherif Y, et al. Clin Case Rep. 2024 Oct 8;12(10):e9354. doi: 10.1002/ccr3.9354. eCollection 2024 Oct. Clin Case Rep. 2024. PMID: 39386347 Free PMC article.
• Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

  Uryu H, Migita O, Ozawa M, Kamijo C, Aoto S, Okamura K, Hasegawa F, Okuyama T, Kosuga M, Hata K. Uryu H, et al. Mol Genet Metab Rep. 2022 Sep 28;33:100921. doi: 10.1016/j.ymgmr.2022.100921. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36186840 Free PMC article.
• Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.

  Veldman BCF, Schoenmakers DH, van Dussen L, Datema MR, Langeveld M. Veldman BCF, et al. Int J Mol Sci. 2024 Sep 9;25(17):9752. doi: 10.3390/ijms25179752. Int J Mol Sci. 2024. PMID: 39273698 Free PMC article. Review.
• Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.

  Kaneski CR, Schiffmann R, Brady RO, Murray GJ. Kaneski CR, et al. J Lipid Res. 2010 Sep;51(9):2808-17. doi: 10.1194/jlr.D007294. Epub 2010 Jun 6. J Lipid Res. 2010. PMID: 20526001 Free PMC article.
• The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study.

  Mallett A, Kearey PJ, Cameron A, Healy HG, Denaro C, Thomas M, Lee VW, Stark SL, Fuller M, Wang Z, Hoy WE. Mallett A, et al. BMC Nephrol. 2022 May 4;23(1):169. doi: 10.1186/s12882-022-02805-8. BMC Nephrol. 2022. PMID: 35505287 Free PMC article.