Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5(1):30.
Article
Google Scholar
Lücke T, Höppner W, Schmidt E, Illsinger S, Das AM. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab. 2004;82(1):93–7.
Article
Google Scholar
Mehta A., Hughes DA. Fabry Disease. 2002 Aug 5 [Updated 2022 Jan 27]. In: Adam MP ED, Mirzaa GM, et al., editor. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. https://www.ncbi.nlm.nih.gov/books/NBK1292/
Sanchez-Niño MD, Carpio D, Sanz AB, Ruiz-Ortega M, Mezzano S, Ortiz A. Lyso-Gb3 activates Notch1 in human podocytes. Hum Mol Genet. 2015;24(20):5720–32.
Article
Google Scholar
Desnick RJ IY, Eng CM. Alpha-Galactosidase A deficiency: Fabry disease. In: Scriver C BA, editor. The online metabolic & molecular bases of inherited diseases: McGraw-Hill; 2001. p. 3733–74. https://ommbid.mhmedical.com/content.aspx?sectionid=225546984&bookid=2709
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–54.
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
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
Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379(9813):335–41.
Article
Google Scholar
Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, et al. Newborn screening for lysosomal storage disorders in illinois: the initial 15-month experience. J Pediatr. 2017;190:130–5.
Article
Google Scholar
Hopkins PV, Klug T, Vermette L, Raburn-Miller J, Kiesling J, Rogers S. Incidence of 4 lysosomal storage disorders from 4 years of newborn screening. JAMA Pediatr. 2018;172(7):696–7.
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
Lin CJ, Chien YH, Lai TS, Shih HM, Chen YC, Pan CF, et al. Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan Medical Center. Kidney Blood Press Res. 2018;43(5):1636–45.
Article
CAS
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, Körver 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
Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236–42.
Article
CAS
Google Scholar
Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney Int. 2017;91(2):284–93.
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.
Article
CAS
Google Scholar
Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis. 2001;24(7):715–24.
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
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416–27.
Article
CAS
Google Scholar
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189–203.
Article
CAS
Google Scholar
Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015;10:36.
Article
Google Scholar
Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28(5):1631–41.
Article
CAS
Google Scholar
Lenders M, Hennermann JB, Kurschat C, Rolfs A, Canaan-Kühl S, Sommer C, et al. Multicenter Female Fabry Study (MFFS)—clinical survey on current treatment of females with Fabry disease. Orphanet J Rare Dis. 2016;11(1):88.
Article
Google Scholar
Martins AM, Cabrera G, Molt F, Suárez-Obando F, Valdés RA, Varas C, et al. The clinical profiles of female patients with Fabry disease in Latin America: a Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status. JIMD Rep. 2019;49(1):107–17.
Article
Google Scholar
Barba-Romero M, Pintos-Morell G. Gender differences in the application of Spanish criteria for initiation of enzyme replacement therapy for Fabry disease in the Fabry Outcome Survey. Int J Mol Sci. 2016;17(12):1965.
Article
Google Scholar
Vardarli I, Rischpler C, Herrmann K, Weidemann F. Diagnosis and screening of patients with Fabry disease. Ther Clin Risk Manag. 2020;16:551–8.
Article
CAS
Google Scholar
Barba-Romero MA, Serena J, Puig JM, Valverde CV, Climent V, Herrero JA, et al. Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy. Med Clin (Barc). 2019;153(2):47–55.
Article
Google Scholar
Goicoechea M, Gomez-Preciado F, Benito S, Torras J, Torra R, Huerta A, et al. Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy. Nefrologia (Engl Ed). 2021;41:652–60.
Article
Google Scholar
Germain DP, Oliveira JP, Bichet DG, Yoo HW, Hopkin RJ, Lemay R, et al. Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup. J Med Genet. 2020;57(8):542–51.
Article
CAS
Google Scholar
Kant S, Atta MG. Therapeutic advances in Fabry disease: the future awaits. Biomed Pharmacother. 2020;131: 110779.
Article
CAS
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
Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5):555–64.
Article
Google Scholar
Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, et al. Proposed stages of myocardial phenotype development in Fabry disease. JACC Cardiovasc Imaging. 2019;12(8 Pt 2):1673–83.
Article
Google Scholar
Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab. 2019;126(2):169–82.
Article
CAS
Google Scholar
Desnick RJ, Chen R, Srinivasan R, Doheny DO, Bishop D. The Fabry disease genotype-phenotype database (dbFGP): an international expert consortium. Mol Genet Metab. 2017;120(1):S41–2.
Article
Google Scholar
Saito S, Ohno K, Sakuraba H. Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease. J Hum Genet. 2011;56(6):467–8.
Article
CAS
Google Scholar
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017;54(4):288–96.
Article
CAS
Google Scholar
Chapter 2: Definition, identification, and prediction of CKD progression. Kidney Int Suppl (2011). 2013;3(1):63–72.
Fancellu L, Borsini W, Romani I, Pirisi A, Deiana GA, Sechi E, et al. Exploratory screening for Fabry’s disease in young adults with cerebrovascular disorders in northern Sardinia. BMC Neurol. 2015;15:256.
Article
Google Scholar