Comment: Why are females with Fabry disease affected?

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B.R. Migeon, Non-random X chromosome inactivation in mammalian cells Cytogenetic and Genome Research. ,vol. 80, pp. 142- 148 ,(1998) , 10.1159/000014971

Robert Dobrovolny, Lenka Dvorakova, Jana Ledvinova, Sudheera Magage, Jan Bultas, Jean C. Lubanda, Milan Elleder, Debora Karetova, Marketa Pavlikova, Martin Hrebicek, Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population Journal of Molecular Medicine. ,vol. 83, pp. 647- 654 ,(2005) , 10.1007/S00109-005-0656-2

R. Martin, M. Beck, C. Eng, R. Giugliani, P. Harmatz, V. Munoz, J. Muenzer, Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome) Pediatrics. ,vol. 121, ,(2008) , 10.1542/PEDS.2007-1350

Louise Lapagesse de Camargo Pinto, Sharbel Weidner Maluf, Sandra Leistner-Segal, Camila Zimmer da Silva, Ana Brusius-Facchin, Maira Graef Burin, Silvia Brustolin, Juan Llerena, Lucia Moraes, Leonardo Vedolin, Alice Schuch, Roberto Giugliani, Ida Vanessa Doederlein Schwartz, Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X‐inactivation analysis and imaging evaluations American Journal of Medical Genetics Part A. ,vol. 155, pp. 50- 57 ,(2011) , 10.1002/AJMG.A.33770

Karin Tuschl, Andreas Gal, Eduard Paschke, Susanne Kircher, Olaf A. Bodamer, Mucopolysaccharidosis type II in females: case report and review of literature. Pediatric Neurology. ,vol. 32, pp. 270- 272 ,(2005) , 10.1016/J.PEDIATRNEUROL.2004.10.009

Maria Fuller, Natalie Mellett, Leanne K. Hein, Doug A. Brooks, Peter J. Meikle, Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts Molecular Genetics and Metabolism. ,vol. 114, pp. 268- 273 ,(2015) , 10.1016/J.YMGME.2014.11.005

William B. Dobyns, Allison Filauro, Brett N. Tomson, April S. Chan, Allen W. Ho, Nicholas T. Ting, Jan C. Oosterwijk, Carole Ober, Inheritance of most X-linked traits is not dominant or recessive, just X-linked American Journal of Medical Genetics Part A. ,vol. 129, pp. 136- 143 ,(2004) , 10.1002/AJMG.A.30123

L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt, D.P. Germain, X-chromosome inactivation in female patients with Fabry disease. Clinical Genetics. ,vol. 89, pp. 44- 54 ,(2016) , 10.1111/CGE.12613

Jonathan C.P. Roos, Matthew J. Daniels, Elizabeth Morris, Hanna I. Hyry, Timothy M. Cox, Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management Molecular Genetics and Metabolism. ,vol. 123, pp. 177- 183 ,(2017) , 10.1016/J.YMGME.2017.06.008