• 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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    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.

    CAS 
    Article 

    Google Scholar
     

  • Rights and permissions

    Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

    Disclaimer:

    This article is autogenerated using RSS feeds and has not been created or edited by OA JF.

    Click here for Source link (https://www.biomedcentral.com/)