1. Desnick RJ, Ioannou YA, Eng CM: α-Galactosidase A Deficiency: Fabry Disease. In: The Online Metabolic and Molecular Bases of Inherited Disease. Edited by Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson KM, Mitchell G. New York, NY: The McGraw-Hill Companies, Inc.; 2014.
2. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ: High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006, 79(1):31-40.
3. Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M et al: Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol 2016.
4. Morand O, Johnson J, Walter J, Atkinson L, Kline G, Frey A, Politei J, Schiffmann R: Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey. Adv Ther 2019, 36(10):2866-2880.
5. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ: An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991, 324(6):395-399.
6. Oliveira JP, Nowak A, Barbey F, Torres M, Nunes JP, Teixeira ECF, Carvalho F, Sampaio S, Tavares I, Pereira O et al: Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males. Eur J Med Genet 2019:103703.
7. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H et al: Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003, 64(3):801-807.
8. Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, de Mazancourt P, Germain DP: X chromosome inactivation in female patients with Fabry disease. Clin Genet 2015.
9. Uceyler N, Ganendiran S, Kramer D, Sommer C: Characterization of pain in fabry disease. Clin J Pain 2014, 30(10):915-920.
10. Duning T, Deppe M, Keller S, Schiffbauer H, Stypmann J, Bontert M, Schaefer R, Young P: Excessive Daytime Sleepiness Is a Common Symptom in Fabry Disease. Case Rep Neurol 2009, 1(1):33-40.
11. Rosa Neto NS, Bento JCB, Pereira RMR: Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients. Mol Genet Metab Rep 2020, 22:100547.
12. Gaisl T, Nowak A, Sievi NA, Gerard N, Clarenbach CF, Kohler M, Franzen D: Obstructive sleep apnea and quality of life in Fabry disease: a prospective parallel cohort study. Sleep Breath 2020, 24(1):95-101.
13. Yazdanfard PD, Madsen CV, Nielsen LH, Rasmussen AK, Petersen JH, Seth A, Sorensen SS, Kober L, Feldt-Rasmussen U: Significant hearing loss in Fabry disease: Study of the Danish nationwide cohort prior to treatment. PLoS One 2019, 14(12):e0225071.
14. 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):141-149.
15. Gold KF, Pastores GM, Botteman MF, Yeh JM, Sweeney S, Aliski W, Pashos CL: Quality of life of patients with Fabry disease. Qual Life Res 2002, 11(4):317-327.
16. Wagner M, Kramer J, Blohm E, Vergho D, Weidemann F, Breunig F, Wanner C: Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease. BMC Nephrol 2014, 15:188.
17. 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.
18. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A et al: Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 2018, 123(4):416-427.
19. Siegenthaler M, Huynh-Do U, Krayenbuehl P, Pollock E, Widmer U, Debaix H, Olinger E, Frank M, Namdar M, Ruschitzka F et al: Impact of cardio-renal syndrome on adverse outcomes in patients with Fabry disease in a long-term follow-up. Int J Cardiol 2017, 249:261-267.
20. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ, International Collaborative Fabry Disease Study G: Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001, 345(1):9-16.
21. Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H et al: Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med 2016, 375(6):545-555.
22. Hilz MJ, Brys M, Marthol H, Stemper B, Dutsch M: Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 2004, 62(7):1066-1072.
23. Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R, Investigators FOSE: Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 2005, 42(3):247-252.
24. Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, Hutton EJ, Karaa A, Liguori R, Uceyler N et al: Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment. CNS Neurosci Ther 2016, 22(7):568-576.
25. Arning K, Naleschinski D, Maag R, Biegstraaten M, Kropp P, Lorenzen J, Hollak CE, van Schaik IN, Harten P, Zeuner RA et al: FabryScan: a screening tool for early detection of Fabry disease. J Neurol 2012, 259(11):2393-2400.
26. Ramaswami U, Stull DE, Parini R, Pintos-Morell G, Whybra C, Kalkum G, Rohrbach M, Raluy-Callado M, Beck M, Chen WH et al: Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ). Health Qual Life Outcomes 2012, 10:116.
27. Magg B, Riegler C, Wiedmann S, Heuschmann P, Sommer C, Uceyler N: Self-administered version of the Fabry-associated pain questionnaire for adult patients. Orphanet J Rare Dis 2015, 10:113.
28. Politei J, Thurberg BL, Wallace E, Warnock D, Serebrinsky G, Durand C, Schenone AB: Gastrointestinal involvement in Fabry disease. So important, yet often neglected. Clin Genet 2016, 89(1):5-9.
29. Lenders M, Boutin M, Auray-Blais C, Brand E: Effects of Orally Delivered Alpha-Galactosidase A on Gastrointestinal Symptoms in Patients With Fabry Disease. Gastroenterology 2020, 159(4):1602-1604.
30. Nowak A, Mechtler T, Kasper DC, Desnick RJ: Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease. Mol Genet Metab 2017, 121(4):320-324.
31. Nowak A, Mechtler TP, Desnick RJ, Kasper DC: Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. Mol Genet Metab 2017, 120(1-2):57-61.
32. Nowak A, Mechtler TP, Hornemann T, Gawinecka J, Theswet E, Hilz MJ, Kasper DC: Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. Mol Genet Metab 2017.
33. Nowak A, Beuschlein F, Sivasubramaniam V, Kasper D, Warnock DG: Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. J Med Genet 2021.
34. Nowak A, Huynh-Do U, Krayenbuehl PA, Beuschlein F, Schiffmann R, Barbey F: Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort. J Inherit Metab Dis 2020, 43(2):326-333.
35. Defraigne JO, Lavigne JP, Remy D, Dekoster G, Limet R: [Mitral valve replacement in post-infarction rupture of the papillary muscle. Apropos of 13 cases surgically treated during the acute phase of infarction]. Arch Mal Coeur Vaiss 1990, 83(3):377-382.
36. Brazier J, Jones N, Kind P: Testing the validity of the Euroqol and comparing it with the SF-36 health survey questionnaire. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 1993, 2(3):169-180.
37. Greiner W, Weijnen T, Nieuwenhuizen M, Oppe S, Badia X, Busschbach J, Buxton M, Dolan P, Kind P, Krabbe P et al: A single European currency for EQ-5D health states. Results from a six-country study. Eur J Health Econ 2003, 4(3):222-231.
38. Beck AT, Ward CH, Mendelson M, Mock J, Erbaugh J: An inventory for measuring depression. Arch Gen Psychiatry 1961, 4:561-571.
39. Harrell FE, Lee KL, Pollock BG: Regression-Models in Clinical-Studies - Determining Relationships between Predictors and Response. J Natl Cancer I 1988, 80(15):1198-1202.