References
1. Hsu TR, Niu DM. Fabry disease: Review and experience during newborn screening. Trends Cardiovasc Med. 2018;28(4):274-281.
2. Schiffmann R. Fabry disease. Handb Clin Neurol.2015;132:231-248.
3. Platt FM, d’Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers. 2018;4(1):27.
4. Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007;9(1):34-45.
5. Deegan PB, Bahner F, Barba M, Hughes DA, Beck M. Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford2006.
6. Mallett A, Kearey P, Cameron A, et al. The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia. BMC Nephrol. 2020;21(1):58.
7. Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. J Med Genet. 2018;55(4):261-268.
8. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008;105(8):2812-2817.
9. Thadhani R, Wolf M, West ML, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 2002;61(1):249-255.
10. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427.
11. Reynolds TM, Mewies C, Hamilton J, Wierzbicki AS, group PPC. Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy. J Clin Pathol. 2018;71(7):608-613.
12. Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta. 2004;347(1-2):97-102.
13. MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis. 2001;24 Suppl 2:13-14; discussion 11-12.
14. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79(1):31-40.
15. Sawada T, Kido J, Yoshida S, et al. Newborn screening for Fabry disease in the western region of Japan. Mol Genet Metab Rep.2020;22:100562.
16. Nakao S, Kodama C, Takenaka T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a ”renal variant” phenotype. Kidney Int. 2003;64(3):801-807.
17. Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM. 2010;103(9):641-659.
18. Capuano I, Garofalo C, Buonanno P, et al. Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019. J Nephrol. 2019.
19. Jahan S, Sarathchandran S, Akhter S, et al. Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study. Orphanet J Rare Dis. 2020;15(1):10.
20. Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta. 2005;353(1-2):201-203.
21. Stiles AR, Zhang H, Dai J, et al. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females. Mol Genet Metab. 2020.
22. Shabbeer J, Robinson M, Desnick RJ. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat. 2005;25(3):299-305.
23. National Institute for Health and Care Excellence. Chronic kidney disease in adults: assessment and management. Clinical guideline (CG182). 2014; NICE CKD. Available at: https://www.nice.org.uk/guidance/cg182. Accessed 1/4, 2020.
24. Riccio E, Sabbatini M, Capuano I, Pisani A. Early Biomarkers of Fabry Nephropathy: A Review of the Literature. Nephron.2019;143(4):274-281.
25. Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, et al. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. Mol Genet Metab.2018;123(2):76-84.