Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
Article
Google Scholar
Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C, et al. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant. 2008;23(5):1600–7.
Article
CAS
Google Scholar
Ortiz A, Cianciaruso B, Cizmarik M, Germain DP, Mignani R, Oliveira JP, et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry registry. Nephrol Dial Transplant. 2010;25(3):769–75.
Article
Google Scholar
Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry registry. Genet Med. 2009;11(11):790–6.
Article
Google Scholar
Arends M, Hollak CE, Biegstraaten M. Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet J Rare Dis. 2015;10:77.
Article
Google Scholar
Arends M, Korver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M. Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study. J Inherit Metab Dis. 2018;41(1):141–9.
Article
Google Scholar
Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet Med. 2006;8(6):346–53.
Article
Google Scholar
Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, et al. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest. 1989;83(4):1390–9.
Article
CAS
Google Scholar
Romeo G, Migeon BR. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science. 1970;170(3954):180–1.
Article
CAS
Google Scholar
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38(11):769–75.
Article
CAS
Google Scholar
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79(1):31–40.
Article
CAS
Google Scholar
Wendrich K, Whybra C, Ries M, Gal A, Beck M. Neurological manifestation of Fabry disease in females. Contrib Nephrol. 2001;136:241–4.
Article
Google Scholar
Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase a activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2):122–38.
Article
CAS
Google Scholar
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry. Mol Genet Metab. 2008;93(2):112–28.
Article
CAS
Google Scholar
Germain DP, Benistan K, Angelova L. X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease. Rev Med Interne. 2010;31(Suppl 2):S209–13.
Article
Google Scholar
van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet. 2014;51(1):1–9.
Article
Google Scholar
Colon C, Ortolano S, Melcon-Crespo C, Alvarez JV, Lopez-Suarez OE, Couce ML, et al. Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr. 2017;176(8):1075–81.
Article
Google Scholar
Navarrete-Martinez JI, Limon-Rojas AE, Gaytan-Garcia MJ, Reyna-Figueroa J, Wakida-Kusunoki G, Delgado-Calvillo MDR, et al. Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: three-year findings from a screening program in a closed Mexican health system. Mol Genet Metab. 2017;121(1):16–21.
Article
CAS
Google Scholar
Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>a (IVS4+919G>a). Hum Mutat. 2009;30(10):1397–405.
Article
CAS
Google Scholar
Yalin SF, Eren N, Sinangil A, Yilmaz VT, Tatar E, Ucar AR, et al. Fabry disease prevalence in renal replacement therapy in Turkey. Nephron. 2019;142(1):26–33.
Article
CAS
Google Scholar
Silva CA, Barreto FC, Dos Reis MA, Moura Junior JA, Cruz CM. Targeted screening of Fabry disease in male hemodialysis patients in Brazil highlights importance of family screening. Nephron. 2016;134(4):221–30.
Article
CAS
Google Scholar
Moiseev S, Fomin V, Savostyanov K, Pushkov A, Moiseev A, Svistunov A, et al. The prevalence and clinical features of Fabry disease in hemodialysis patients: Russian Nationwide Fabry Dialysis screening program. Nephron. 2019;141(4):249–55.
Article
CAS
Google Scholar
Linthorst GE, Bouwman MG, Wijburg FA, Aerts JM, Poorthuis BJ, Hollak CE. Screening for Fabry disease in high-risk populations: a systematic review. J Med Genet. 2010;47(4):217–22.
Article
CAS
Google Scholar
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):261–8.
Article
CAS
Google Scholar
Levey AS, Eckardt KU, Dorman NM, Christiansen SL, Hoorn EJ, Ingelfinger JR, et al. Nomenclature for kidney function and disease: report of a kidney disease: improving global outcomes (KDIGO) consensus conference. Kidney Int. 2020;97(6):1117–29.
Article
Google Scholar
Turkmen K, Guclu A, Sahin G, Kocyigit I, Demirtas L, Erdur FM, et al. The prevalence of Fabry disease in patients with chronic kidney disease in Turkey: the TURKFAB study. Kidney Blood Press Res. 2016;41(6):1016–24.
Article
Google Scholar
Yenicerioglu Y, Akdam H, Dursun B, Alp A, Saglam Eyiler F, Akin D, et al. Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study. Ren Fail. 2017;39(1):104–11.
Article
CAS
Google Scholar
Favalli V, Disabella E, Molinaro M, Tagliani M, Scarabotto A, Serio A, et al. Genetic screening of AndersonFabry disease in Probands referred from multispecialty clinics. J Am Coll Cardiol. 2016;68(10):1037–50.
Article
Google Scholar
Stark S, Fong B, Fletcher J, Fietz M. Screening for Fabry disease using dried blood spots. Adelaide: 38th Human Genetics Society of Australasia Annual Scientific Meeting; 2014.
Google Scholar
Banikazemi M, Desnick RJ. Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis? Nat Clin Pract Nephrol. 2006;2(2):72–3.
Article
Google Scholar
Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285(21):2743–9.
Article
CAS
Google Scholar
Mallett A, Kearey P, Cameron A, Healy H, Denaro C, Thomas M, 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.
Jahan S, Sarathchandran S, Akhter S, Goldblatt J, Stark S, Crawford D, 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.
Article
Google Scholar
Talbot A, Nicholls K, Fletcher JM, Fuller M. A simple method for quantification of plasma globotriaosylsphingosine: utility for Fabry disease. Mol Genet Metab. 2017;122(1–2):121–5.
Article
CAS
Google Scholar
Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap) – a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377–81.
Article
Google Scholar
QldHealth: the health of Queenslanders: report of the chief Health officer Queensland. In. Edited by Health Q. Brisbane, Australia: Queensland Government; 2018.
ABS: Australian Aboriginal and Torres Strait Islander Health Survey: Biomedical Results, 2012–13. In. Edited by Statistics ABo. Canberra, Australia: Australian Government; 2014.
Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012;27(3):1042–9.
Article
CAS
Google Scholar
Auray-Blais C, Lavoie P, Abaoui M, Cote AM, Boutin M, Akbari A, et al. High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients. Clin Chim Acta. 2020;501:234–40.
Article
CAS
Google Scholar