REFERENCES
2. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93:112-28.
3. Barba-Romero MÁ, 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;17:1965.
4. Lenders M, Hennermann JB, Kurschat C, et al. Multicenter female Fabry study (mffs) - clinical survey on current treatment of females with Fabry disease. Orphanet J Rare Dis. 2016;11:88.
5. Sánchez R, Ripoll-Vera T, López-Mendoza M, et al. The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants. Orphanet J Rare Dis. 2023;18:8.
6. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123:416-27.
7. Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28:1631-41.
8. Niemann M, Herrmann S, Hu K, et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging. 2011;4:592-601.
9. Beck M, Ramaswami U, Hernberg-Ståhl E, et al. Twenty years of the fabry outcome survey (FOS): insights, achievements, and lessons learned from a global patient registry. Orphanet J Rare Dis. 2022;17:238.
10. Wanner C, Ortiz A, Wilcox WR, et al. Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community. Mol Genet Metab. 2023;139:107603.
11. Hwu WL, Chien YH, Lee NC, 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;30:1397-405.
12. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79:31-40.
13. Burton BK, Charrow J, Hoganson GE, et al. Newborn screening for lysosomal storage disorders in illinois: the initial 15-month experience. J Pediatr. 2017;190:130-5.
14. 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;172:696-7.
15. 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;38:769-75.
16. Poupetová H, Ledvinová J, Berná L, Dvoráková L, Kozich V, Elleder M. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis. 2010;33:387-96.
17. Mechtler TP, Stary S, Metz TF, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379:335-41.
18. Dobyns WB, Filauro A, Tomson BN, et al. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A. 2004;129A:136-43.
19. LYON MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961;190:372-3.
20. Romeo G, Migeon BR. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science. 1970;170:180-1.
21. Happle R. X-chromosome inactivation: role in skin disease expression. Acta Paediatr Suppl. 2006;95:16-23.
22. Hughes DA. Early therapeutic intervention in females with Fabry disease? Acta Paediatr. 2008;97:41-7.
23. Viggiano E, Politano L. X Chromosome inactivation in carriers of Fabry disease: review and meta-analysis. Int J Mol Sci. 2021;22:7663.
24. Dobrovolny R, Dvorakova L, Ledvinova J, et al. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med (Berl). 2005;83:647-54.
25. Echevarria L, Benistan K, Toussaint A, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016;89:44-54.
26. Juchniewicz P, Kloska A, Tylki-Szymańska A, et al. Female Fabry disease patients and X-chromosome inactivation. Gene. 2018;641:259-64.
27. Wagenhäuser L, Rickert V, Sommer C, et al. X-chromosomal inactivation patterns in women with Fabry disease. Mol Genet Genomic Med. 2022;10:e2029.
28. Řeboun M, Sikora J, Magner M, et al. Pitfalls of X-chromosome inactivation testing in females with Fabry disease. Am J Med Genet A. 2022;188:1979-89.
29. Hossain MA, Wu C, Yanagisawa H, Miyajima T, Akiyama K, Eto Y. Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene. Mol Genet Metab Rep. 2019;20:100497.
30. Di Risi T, Vinciguerra R, Cuomo M, et al. DNA methylation impact on Fabry disease. Clin Epigenetics. 2021;13:24.
31. Yanagisawa H, Hossain MA, Miyajima T, Nagao K, Miyashita T, Eto Y. Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy. Mol Genet Metab. 2019;126:460-5.
32. Najafian B, Silvestroni A, Sokolovskiy A, et al. A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease. Kidney Int. 2022;102:173-82.
33. Fuller M, Mellett N, Hein LK, Brooks DA, Meikle PJ. Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts. Mol Genet Metab. 2015;114:268-73.
34. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008;105:2812-7.
35. Barbey F, Brakch N, Linhart A, et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol. 2006;26:839-44.
36. Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase a deficiency: Fabry disease. In: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, editors. The metabolic and molecular bases of inherited disease,eighth ed. New York: McGraw Hill; 2001, pp. 3733-74.
37. Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M. European FOS Investigators. Natural history of Fabry disease in females in the fabry outcome survey. J Med Genet. 2006;43:347-52.
38. Wanner C, Oliveira JP, Ortiz A, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010;5:2220-8.
39. Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009;24:2102-11.
40. El Sayed M, Hirsch A, Boekholdt M, et al. Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease. Heart. 2021;107:1889-97.
41. 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;11:790-6.
42. Mehta A, Clarke JT, Giugliani R, et al. FOS Investigators. Natural course of Fabry disease: changing pattern of causes of death in FOS - fabry outcome survey. J Med Genet. 2009;46:548-52.
43. Shi Q, Chen J, Pongmoragot J, Lanthier S, Saposnik G. Prevalence of Fabry disease in stroke patients--a systematic review and meta-analysis. J Stroke Cerebrovasc Dis. 2014;23:985-92.
44. Körver S, Vergouwe M, Hollak CEM, van Schaik IN, Langeveld M. Development and clinical consequences of white matter lesions in Fabry disease: a systematic review. Mol Genet Metab. 2018;125:205-16.
45. Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64:550-5.
46. Zar-Kessler C, Karaa A, Sims KB, Clarke V, Kuo B. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis. Therap Adv Gastroenterol. 2016;9:626-34.
47. Hauser AC, Gessl A, Harm F, et al. Hormonal profile and fertility in patients with Anderson-Fabry disease. Int J Clin Pract. 2005;59:1025-8.
48. Hughes D, Romero MB, Gurevich A, Engrand P, Giugliani R. Menarche, menopause, and pregnancy data in untreated females and females treated with agalsidase alfa in the fabry outcome survey. Molecular Genetics and Metabolism. 2018;123:S67.
49. Wang Z, Asokan G, Onnela JP, et al. Menarche and time to cycle regularity among individuals born between 1950 and 2005 in the US. JAMA Netw Open. 2024;7:e2412854.
50. Bouwman MG, Rombach SM, Schenk E, et al. Prevalence of symptoms in female Fabry disease patients: a case-control survey. J Inherit Metab Dis. 2012;35:891-8.
51. Laney DA, Clarke V, Foley A, et al. The impact of Fabry Disease on reproductive fitness. In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, editors. JIMD Reports, Volume 37. Berlin: Springer Berlin Heidelberg; 2017. pp. 85-97.
52. Vedder AC, Strijland A, vd Bergh Weerman MA, Florquin S, Aerts JM, Hollak CE. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis. 2006;29:106-11.
53. Bouwman MG, Hollak CE, van den Bergh Weerman MA, Wijburg FA, Linthorst GE. Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy. Placenta. 2010;31:344-6.
54. Thurberg BL, Politei JM. Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol. 2012;43:610-4.
55. Holmes A, Laney D. A retrospective survey studying the impact of Fabry Disease on pregnancy. In: Zschocke J, Baumgartner M, Morava E, Patterson M, Rahman S, Peters V, editors. JIMD Reports, Volume 21. Berlin: Springer Berlin Heidelberg; 2015. pp. 57-63.
56. Haninger-Vacariu N, Anastopoulos K, Aigner C, et al. Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study. Orphanet J Rare Dis. 2024;19:165.
57. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the fabry outcome survey. Eur J Clin Invest. 2004;34:236-42.
58. Osunkoya AO, Agte SD, Laszik Z. A 67-year-old woman with chronic proteinuria. Focal segmental and global glomerulosclerosis with light microscopic and ultrastructural features consistent with Fabry disease. Arch Pathol Lab Med. 2006;130:e93-5.
59. Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110:1047-53.
60. Gupta S, Ries M, Kotsopoulos S, Schiffmann R. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore). 2005;84:261-8.
61. Desnick RJ, Bernstein HS, Astrin KH, Bishop DF. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes. Enzyme. 1987;38:54-64.
62. Ashton-prolla P, Ashley G, Giugliani R, Pires R, Desnick R, Eng C. Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). Am J Med Genet. 1999;84:420-4.
63. Linthorst GE, Poorthuis BJ, Hollak CE. Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results. J Am Coll Cardiol. 2008;51:2082; author reply 2082-3.
64. Duro G, Zizzo C, Cammarata G, et al. Mutations in the GLA Gene and LysoGb3: Is it really Anderson-Fabry Disease? Int J Mol Sci. 2018;19:3726.
65. Gal A, Hughes DA, Winchester B. Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group. J Inherit Metab Dis. 2011;34:509-14.
66. Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet. 2002;70:994-1002.
67. Kornreich R, Bishop DF, Desnick RJ. α-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem. 1990; 265:9319-9326.
68. Tuttolomondo A, Duro G, Pecoraro R, et al. A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene. Clin Biochem. 2015;48:55-62.
69. Desnick RJ, Dawson G, Desnick SJ, Sweeley CC, Krivit W. Diagnosis of glycosphingolipidoses by urinary-sediment analysis. N Engl J Med. 1971;284:739-44.
70. Cable WJ, McCluer RH, Kolodny EH, Ullman MD. Fabry disease: detection of heterozygotes by examination of glycolipids in urinary sediment. Neurology. 1982;32:1139-45.
71. Vedder AC, Linthorst GE, van Breemen MJ, et al. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis. 2007;30:68-78.
72. Young E, Mills K, Morris P, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl. 2005;94:51-4; discussion 37.
73. Simonetta I, Tuttolomondo A, Daidone M, Pinto A. Biomarkers in Anderson-Fabry Disease. Int J Mol Sci. 2020;21:8080.
74. 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;120:57-61.
75. Auray-Blais C, Boutin M, Gagnon R, Dupont FO, Lavoie P, Clarke JT. Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics. Anal Chem. 2012;84:2745-53.
76. Rocchetti MT, Spadaccino F, Catalano V, et al. Metabolic fingerprinting of Fabry disease: diagnostic and prognostic aspects. Metabolites. 2022;12:703.
77. Baydakova GV, Ilyushkina AA, Moiseev S, et al. α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females. Clin Chim Acta. 2020;501:27-32.
78. Balendran S, Oliva P, Sansen S, et al. Diagnostic strategy for females suspected of Fabry disease. Clin Genet. 2020;97:655-60.
80. Palaiodimou L, Kokotis P, Zompola C, et al. Fabry disease: current and novel therapeutic strategies. A narrative review. Curr Neuropharmacol. 2023;21:440-56.
81. Feriozzi S, Linhart A, Ramaswami U, Kalampoki V, Gurevich A, Hughes D, Fabry Outcome Survey Study Group. Effects of baseline left ventricular hypertrophy and decreased renal function on cardiovascular and renal outcomes in patients with Fabry disease treated with agalsidase alfa: a fabry outcome survey study. Clin Ther. 2020;42:2321-2330.e0.
82. Hughes DA, Barba Romero MÁ, Hollak CE, Giugliani R, Deegan PB. Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the fabry outcome survey. Mol Genet Metab. 2011;103:207-14.
83. Biegstraaten M, Arngrímsson R, Barbey F, 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.
84. Hughes D, Linhart A, Gurevich A, Kalampoki V, Jazukeviciene D, Feriozzi S. FOS Study Group. Prompt agalsidase alfa therapy initiation is associated with improved renal and cardiovascular outcomes in a fabry outcome survey analysis. Drug Des Devel Ther. 2021;15:3561-72.
85. Wanner C, Feldt-Rasmussen U, Jovanovic A, et al. Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis. ESC Heart Fail. 2020;7:825-34.