{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T17:41:35Z","timestamp":1791308495465,"version":"4.3.1"},"reference-count":146,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2021,7,17]],"date-time":"2021-07-17T00:00:00Z","timestamp":1626480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of \u03b1-galactosidase A. The incidence ranges between 1: 40,000 and 1:117,000 of live male births. In Italy, an estimate of incidence is available only for the north-western Italy, where it is of approximately 1:4000. Clinical symptoms include angiokeratomas, corneal dystrophy, and neurological, cardiac and kidney involvement. The prevalence of symptomatic female carriers is about 70%, and in some cases, they can exhibit a severe phenotype. Previous studies suggest a correlation between skewed X chromosome inactivation and symptoms in carriers of X-linked disease, including Fabry disease. In this review, we briefly summarize the disease, focusing on the clinical symptoms of carriers and analysis of the studies so far published in regards to X chromosome inactivation pattern, and manifesting Fabry carriers. Out of 151 records identified, only five reported the correlation between the analysis of XCI in leukocytes and the related phenotype in Fabry carriers, in particular evaluating the Mainz Severity Score Index or cardiac involvement. The meta-analysis did not show any correlation between MSSI or cardiac involvement and skewed XCI, likely because the analysis of XCI in leukocytes is not useful for predicting the phenotype in Fabry carriers.<\/jats:p>","DOI":"10.3390\/ijms22147663","type":"journal-article","created":{"date-parts":[[2021,7,18]],"date-time":"2021-07-18T21:16:48Z","timestamp":1626643008000},"page":"7663","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis"],"prefix":"10.3390","volume":"22","author":[{"given":"Emanuela","family":"Viggiano","sequence":"first","affiliation":[{"name":"Department of Prevention, UOC Hygiene Service and Public Health, ASL Roma 2, 00142 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0925-7158","authenticated-orcid":false,"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine, Luigi Vanvitelli University, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"338","DOI":"10.7326\/0003-4819-138-4-200302180-00014","article-title":"Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy","volume":"138","author":"Desnick","year":"2003","journal-title":"Ann. Intern. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1007\/s10897-008-9179-7","article-title":"Disease rarity, carrier status, and gender: A triple disadvantage for women with fabry disease","volume":"17","author":"Gibas","year":"2008","journal-title":"J. Genet. Couns."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.jmb.2004.01.035","article-title":"The molecular defect leading to fabry disease: Structure of human \u03b1-galactosidase","volume":"337","author":"Garman","year":"2004","journal-title":"J. Mol. Biol."},{"key":"ref_5","unstructured":"Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., and Vogelstein, B. (2001). The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill. [8th ed.]."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in fabry disease","volume":"285","author":"Schiffmann","year":"2001","journal-title":"JAMA"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/s41436-018-0010-z","article-title":"Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients","volume":"21","author":"Hsu","year":"2018","journal-title":"Genet. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1056\/NEJM199102073240607","article-title":"An Atypical Variant of Fabry\u2019s Disease with Manifestations Confined to the Myocardium","volume":"324","author":"Eng","year":"1991","journal-title":"N. Engl. J. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0002-9149(00)01275-3","article-title":"Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry\u2019s disease","volume":"87","author":"Yoshitama","year":"2001","journal-title":"Am. J. Cardiol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An Atypical Variant of Fabry\u2019s Disease in Men with Left Ventricular Hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","article-title":"Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry","volume":"93","author":"Wilcox","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_13","first-page":"660","article-title":"Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family","volume":"138","author":"Bultas","year":"1999","journal-title":"Cas. Lek. Ceskych"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/gim.2014.120","article-title":"Fabry disease in infancy and early childhood: A systematic literature review","volume":"17","author":"Laney","year":"2015","journal-title":"Genet. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.cca.2017.12.033","article-title":"Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease","volume":"478","author":"Moura","year":"2018","journal-title":"Clin. Chim. Acta"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s10545-006-0484-8","article-title":"The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels","volume":"30","author":"Vedder","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"S90","DOI":"10.1016\/j.ymgme.2018.12.224","article-title":"Interfamily variability in patients with classical Fabry disease","volume":"126","author":"Laney","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"61415","DOI":"10.18632\/oncotarget.18250","article-title":"Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease","volume":"8","author":"Tuttolomondo","year":"2017","journal-title":"Oncotarget"},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Effraimidis, G., Feldt-Rasmussen, U., Rasmussen, \u00c5.K., Lavoie, P., Abaoui, M., Boutin, M., and Auray-Blais, C. (2020). Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort. J. Med. Genet.","DOI":"10.1136\/jmedgenet-2020-107162"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.bbadis.2010.05.003","article-title":"Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease","volume":"1802","author":"Rombach","year":"2010","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ymgme.2010.03.020","article-title":"Plasma globotriaosylsphingosine as a biomarker of Fabry disease","volume":"100","author":"Togawa","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.beem.2014.10.003","article-title":"Fabry disease and the heart","volume":"29","author":"Seydelmann","year":"2015","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/ki.2013.520","article-title":"Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease","volume":"86","author":"Shu","year":"2014","journal-title":"Kidney Int."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.bbadis.2011.11.001","article-title":"Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy","volume":"1822","author":"Biancini","year":"2012","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2008.06.016","article-title":"Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells","volume":"95","author":"Shen","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ymgme.2013.02.003","article-title":"Fabry disease peripheral blood immune cells release inflammatory cytokines: Role of globotriaosylceramide","volume":"109","author":"Mucci","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/8904_2014_371","article-title":"Innate and Adaptive Immune Response in Fabry Disease","volume":"22","author":"Mauhin","year":"2015","journal-title":"JIMD Rep."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1007\/s00392-002-0870-7","article-title":"Fabry disease in patients with hypertrophic cardiomyopathy (HCM)","volume":"91","author":"Beer","year":"2002","journal-title":"Z. Kardiol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"2288","DOI":"10.1007\/s10753-015-0214-1","article-title":"Elevated endomyocardial biopsy macrophage-related markers in intractable myocardial diseases","volume":"38","author":"Hayashi","year":"2015","journal-title":"Inflammation"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ymgme.2009.10.004","article-title":"Vasculopathy in patients with Fabry disease: Current controversies and research directions","volume":"99","author":"Rombach","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s40292-020-00414-w","article-title":"The role of immunity in fabry disease and hypertension: A Review of a novel common pathway","volume":"27","author":"Ferri","year":"2020","journal-title":"High Blood Press. Cardiovasc. Prev."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1161\/HYPERTENSIONAHA.112.195685","article-title":"Vascular aspects of fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine","volume":"60","author":"Rombach","year":"2012","journal-title":"Hypertension"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/1750-1172-8-116","article-title":"Fibrosis: A key feature of Fabry disease with potential therapeutic implications","volume":"8","author":"Weidemann","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2771","DOI":"10.1001\/jama.284.21.2771","article-title":"Clinical Features of and Recent Advances in Therapy for Fabry Disease","volume":"284","author":"Brady","year":"2000","journal-title":"JAMA"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1177\/1756283X16642936","article-title":"Understanding the gastrointestinal manifestations of Fabry disease: Promoting prompt diagnosis","volume":"9","author":"Karaa","year":"2016","journal-title":"Ther. Adv. Gastroenterol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1023\/A:1012475908718","article-title":"Renal disease in Fabry patients","volume":"24","author":"Lidove","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1097\/01.gim.0000200950.25118.dd","article-title":"Quantitative dysmorphology assessment in Fabry disease","volume":"8","author":"Ries","year":"2006","journal-title":"Genet. Med."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/sj.ejhg.5201798","article-title":"Three-dimensional face shape in Fabry disease","volume":"15","author":"Vedder","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s12610-019-0088-4","article-title":"Semen and male genital tract characteristics of patients with Fabry disease: The Fertifabry multicentre observational study","volume":"29","author":"Maillard","year":"2019","journal-title":"Basic Clin. Androl."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/8904_2017_17","article-title":"The impact of Fabry disease on reproductive fitness","volume":"37","author":"Laney","year":"2017","journal-title":"JIMD Rep."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"212.e15","DOI":"10.1016\/j.fertnstert.2006.11.036","article-title":"Azoospermia as a new feature of Fabry disease","volume":"88","author":"Deminiere","year":"2007","journal-title":"Fertil. Steril."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/j.ultrasmedbio.2008.10.010","article-title":"Heart valve involvement in fabry cardiomyopathy","volume":"35","author":"Weidemann","year":"2009","journal-title":"Ultrasound Med. Biol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1093\/ejechocard\/jen170","article-title":"Nomen est omen. Fabry disease","volume":"9","author":"Weidemann","year":"2008","journal-title":"Eur. Heart J. Cardiovasc. Imaging"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.jmoldx.2012.09.002","article-title":"Inherited Cardiomyopathies","volume":"15","author":"Teekakirikul","year":"2013","journal-title":"J. Mol. Diagn."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"S388","DOI":"10.21037\/cdt.2019.02.01","article-title":"Hypertrophic cardiomyopathy: Genetics and clinical perspectives","volume":"9","author":"Wolf","year":"2019","journal-title":"Cardiovasc. Diagn. Ther."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1093\/cvr\/cvv025","article-title":"Genetic advances in sarcomeric cardiomyopathies: State of the art","volume":"105","author":"Ho","year":"2015","journal-title":"Cardiovasc. Res."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/gim.2016.90","article-title":"Reassessment of Mendelian gene pathogenicity using 7855 cardiomyopathy cases and 60,706 reference samples","volume":"19","author":"Walsh","year":"2017","journal-title":"Genet. Med."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/gim.2014.205","article-title":"Results of clinical genetic testing of 2912 probands with hypertrophic cardiomyopathy: Expanded panels offer limited additional sensitivity","volume":"17","author":"Alfares","year":"2015","journal-title":"Genet. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"e153","DOI":"10.1016\/j.jtcvs.2011.10.020","article-title":"2011 ACCF\/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy","volume":"142","author":"Gersh","year":"2011","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1023\/A:1012428009627","article-title":"Cardiac manifestations in Fabry disease","volume":"24","author":"Linhart","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1161\/01.CIR.0000061952.27445.A0","article-title":"Early detection of Fabry cardiomyopathy by tissue doppler imaging","volume":"107","author":"Pieroni","year":"2003","journal-title":"Circulation"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.amjcard.2005.05.033","article-title":"Prevalence and clinical significance of cardiac arrhythmia in anderson-fabry disease","volume":"96","author":"Shah","year":"2005","journal-title":"Am. J. Cardiol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1587","DOI":"10.1093\/eurheartj\/eht098","article-title":"Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease","volume":"34","author":"Niemann","year":"2013","journal-title":"Eur. Heart J."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1016\/j.ehj.2003.09.017","article-title":"Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease Evidence for a disease specific abnormality of the myocardial interstitium","volume":"24","author":"Moon","year":"2003","journal-title":"Eur. Heart J."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1111\/cge.13030","article-title":"Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants","volume":"93","author":"Viggiano","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1651-2227.2005.tb02119.x","article-title":"Genotype and phenotype in Fabry disease: Analysis of the Fabry Outcome Survey","volume":"94","author":"Schaefer","year":"2007","journal-title":"Acta Paediatr."},{"key":"ref_58","unstructured":"Mehta, A., Beck, M., and Sunder-Plassmann, G. (2006). Genotype\u2013phenotype correlation in Fabry disease. Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Pan, X., Ouyang, Y., Wang, Z., Ren, H., Shen, P., Wang, W., Xu, Y., Ni, L., Yu, X., and Chen, X. (2016). Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0161330"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/j.gene.2018.11.054","article-title":"High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease","volume":"687","author":"Koca","year":"2019","journal-title":"Gene"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/mgg3.292","article-title":"Different renal phenotypes in related adult males with Fabry disease with the same classic genotype","volume":"5","author":"Mignani","year":"2017","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Lukas, J., Giese, A., Markoff, A., Grittner, U., Kolodny, E., Mascher, H., Lackner, K.J., Meyer, W., Wree, P., and Saviouk, V. (2013). Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in Fabry disease. PLoS Genet., 9.","DOI":"10.1371\/journal.pgen.1003632"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmedgenet-2014-102872","article-title":"Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease","volume":"52","author":"Smid","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_64","first-page":"CD006663","article-title":"Enzyme replacement therapy for Anderson-Fabry disease","volume":"7","author":"Gomaa","year":"2016","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/jmedgenet-2017-104863","article-title":"Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: An international cohort study","volume":"55","author":"Arends","year":"2018","journal-title":"J. Med. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Arends, M., Biegstraaten, M., Hughes, D., Mehta, A., Elliott, P., Oder, D., Watkinson, O.T., Vaz, F., Van Kuilenburg, A.B.P., and Wanner, C. (2017). Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0182379"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1161\/CIRCULATIONAHA.108.794529","article-title":"Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy","volume":"119","author":"Weidemann","year":"2009","journal-title":"Circulation"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.ymgme.2017.05.001","article-title":"Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease","volume":"121","author":"Arends","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Citro, V., Cammisa, M., Liguori, L., Cimmaruta, C., Lukas, J., Cubellis, M.V., and Andreotti, G. (2016). The large phenotypic spectrum of fabry disease requires graduated diagnosis and personalized therapy: A Meta-analysis can help to differentiate missense mutations. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17122010"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of Fabry\u2019s Disease with the Pharmacologic Chaperone Migalastat","volume":"375","author":"Germain","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Liguori, L., Monticelli, M., Allocca, M., Mele, B.H., Lukas, J., Cubellis, M.V., and Andreotti, G. (2020). Pharmacological chaperones: A Therapeutic approach for diseases caused by destabilizing missense mutations. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21020489"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"5089","DOI":"10.2174\/1381612826666200317142412","article-title":"Treatment of Anderson-FabryDisease","volume":"26","author":"Simonetta","year":"2020","journal-title":"Curr. Pharm. Des."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.ekir.2019.11.013","article-title":"Current and investigational therapeutics for fabry disease","volume":"5","author":"Felis","year":"2020","journal-title":"Kidney Int. Rep."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1186\/1750-1172-8-111","article-title":"Fabry_CEP: A tool to identify Fabry mutations responsive to pharmacological chaperones","volume":"8","author":"Cammisa","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/s10545-011-9424-3","article-title":"Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease","volume":"35","author":"Porto","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmedgenet-2016-104178","article-title":"Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study","volume":"54","author":"Hughes","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1002\/jimd.12228","article-title":"Developments in the treatment of Fabry disease","volume":"43","author":"Hollak","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","article-title":"Fabry disease revisited: Management and treatment recommendations for adult patients","volume":"123","author":"Ortiz","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1750-1172-5-14","article-title":"Expression of the disease on female carriers of X-linked lysosomal disorders: A brief review","volume":"5","author":"Pinto","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_80","unstructured":"Mehta, A., Beck, M., and Sunder-Plassmann, G. (2006). Fabry disease in females: Clinical characteristics and effects of enzyme replacement therapy. Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"e2","DOI":"10.1136\/heart.89.1.e2","article-title":"Sisters with atypical Fabry\u2019s disease with complete atrioventricular block","volume":"89","author":"Doi","year":"2003","journal-title":"Heart"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1023\/B:BOLI.0000005658.14563.77","article-title":"Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study","volume":"26","author":"Baehner","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1002\/(SICI)1097-4598(199911)22:11<1531::AID-MUS7>3.0.CO;2-O","article-title":"Current Perception Threshold Testing in Fabry\u2019s Disease","volume":"22","author":"Ro","year":"1999","journal-title":"Muscle Nerve"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1023\/A:1012993305223","article-title":"Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes","volume":"24","author":"Whybra","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"S209","DOI":"10.1016\/S0248-8663(10)70013-8","article-title":"X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease","volume":"31","author":"Germain","year":"2010","journal-title":"Revue M\u00e9d. Interne"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.38.11.769","article-title":"Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/S0140-6736(05)71823-7","article-title":"Pain in Anderson-Fabry\u2019s disease","volume":"357","author":"Chowdhury","year":"2001","journal-title":"Lancet"},{"key":"ref_88","unstructured":"Mehta, A., Beck, M., and Sunder-Plassmann, G. (2006). Natural history and effects of enzyme replacement therapy in children and ad-olescents with Fabry disease. Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis."},{"key":"ref_89","first-page":"1355","article-title":"Fabry disease in children and the effects of enzyme replacement treatment","volume":"168","author":"Beck","year":"2009","journal-title":"Eur. J. Nucl. Med. Mol. Imaging"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/0272-6386(95)90061-6","article-title":"A female heterozygous patient with fabry\u2019s disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody","volume":"26","author":"Fukushima","year":"1995","journal-title":"Am. J. Kidney Dis."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1159\/000190301","article-title":"A Characteristic dissection microscopy appearance of a renal biopsy of a fabry heterozygote","volume":"77","author":"Yuen","year":"1997","journal-title":"Nephron"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1681\/ASN.2008020198","article-title":"X Inactivation, Female Mosaicism, and Sex Differences in Renal Diseases","volume":"19","author":"Migeon","year":"2008","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_93","unstructured":"Mehta, A., Beck, M., and Sunder-Plassmann, G. (2006). Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"476","DOI":"10.2169\/internalmedicine.38.476","article-title":"Fifteen-year follow-up of a heterozygous fabry\u2019s disease patient associated with pre-excitation syndrome","volume":"38","author":"Murata","year":"1999","journal-title":"Intern. Med."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1253\/jcj.63.572","article-title":"Biopsy-proven cardiomyopathy in heterozygous fabry\u2019s disease","volume":"63","author":"Koitabashi","year":"1999","journal-title":"Jpn. Circ. J."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/GIM.0b013e31802d8321","article-title":"Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life","volume":"9","author":"Wang","year":"2007","journal-title":"Genet. Med."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1016\/S0735-1097(02)02380-X","article-title":"Cardiac manifestations of Anderson\u2013Fabry disease in heterozygous females","volume":"40","author":"Kampmann","year":"2002","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"f153","DOI":"10.1093\/europace\/eux261","article-title":"Ventricular arrhythmia and sudden cardiac death in Fabry disease: A systematic review of risk factors in clinical practice","volume":"20","author":"Baig","year":"2017","journal-title":"Europace"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/j.jcmg.2011.01.020","article-title":"Differences in fabry cardiomyopathy between female and male patients: Consequences for diagnostic assessment","volume":"4","author":"Niemann","year":"2011","journal-title":"JACC Cardiovasc. Imaging"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1002\/ajmg.a.32808","article-title":"Homozygous female Becker muscular dystrophy","volume":"149A","author":"Fujii","year":"2009","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/jmg.28.3.209","article-title":"DMD carrier detection in a female with mosaic Turner\u2019s syndrome","volume":"28","author":"Baiget","year":"1991","journal-title":"J. Med. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1002\/pd.1031","article-title":"Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome","volume":"24","author":"Satre","year":"2004","journal-title":"Prenat. Diagn."},{"key":"ref_103","first-page":"160","article-title":"Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy","volume":"60","author":"Quan","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.nmd.2010.05.010","article-title":"Clinical and genetic characterization of manifesting carriers of DMD mutations","volume":"20","author":"Soltanzadeh","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/BF00207374","article-title":"X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: Concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes","volume":"96","author":"Azofeifa","year":"1995","journal-title":"Hum. Gen."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"e2952","DOI":"10.1002\/jgm.2952","article-title":"Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy","volume":"19","author":"Viggiano","year":"2017","journal-title":"J. Gene Med."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s00439-016-1666-6","article-title":"Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy","volume":"135","author":"Viggiano","year":"2016","journal-title":"Hum. Gen."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/cge.12048","article-title":"Comparison of X-chromosome inactivation in Duchenne muscle\/myocardium-manifesting carriers, non-manifesting carriers and related daughters","volume":"84","author":"Viggiano","year":"2012","journal-title":"Clin. Genet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.cca.2013.08.026","article-title":"X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation","volume":"426","author":"Cho","year":"2013","journal-title":"Clin. Chim. Acta"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/s41431-020-00742-4","article-title":"X Chromosome inactivation: A modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers","volume":"29","author":"Garagiola","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s00439-009-0670-5","article-title":"X chromosome inactivation in clinical practice","volume":"126","year":"2009","journal-title":"Hum. Gen."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1093\/hmg\/ddi089","article-title":"Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation","volume":"14","author":"Pugacheva","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng1197-353","article-title":"A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation","volume":"17","author":"Plenge","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1159\/000097414","article-title":"Increased skewing of X chromosome inactivation with age in both blood and buccal cells","volume":"116","author":"Knudsen","year":"2007","journal-title":"Cytogenet. Genome Res."},{"key":"ref_115","first-page":"343","article-title":"Age- and tissue-specific variation of X chromosome inactivation ratios in normal women","volume":"107","author":"Sharp","year":"2000","journal-title":"Qual. Life Res."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1001\/jama.295.12.1428","article-title":"The Role of X inactivation and cellular mosaicism in women\u2019s health and sex-specific diseases","volume":"295","author":"Migeon","year":"2006","journal-title":"JAMA"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1086\/507565","article-title":"X Chromosome\u2013Inactivation Patterns of 1005 Phenotypically Unaffected Females","volume":"79","author":"Cottle","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1172\/JCI33166","article-title":"No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans","volume":"118","author":"Bolduc","year":"2008","journal-title":"J. Clin. Investig."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1046\/j.1365-2141.1997.2573078.x","article-title":"Acquired skewing of X-chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age","volume":"98","author":"Gale","year":"1997","journal-title":"Br. J. Haematol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1182\/blood.V83.4.931.931","article-title":"Clonality and x-inactivation patterns in hematopoietic cell populations detected by the highly informative m27 beta dna probe","volume":"83","author":"Fey","year":"1994","journal-title":"Blood"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"2449","DOI":"10.1182\/blood.V95.7.2449","article-title":"X-Linked genetic factors regulate hematopoietic stem-cell kinetics in females","volume":"95","author":"Christensen","year":"2000","journal-title":"Blood"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1182\/blood.V88.1.59.59","article-title":"Nonrandom X-inactivation patterns in normal females: Lyonization ratios vary with age","volume":"88","author":"Busque","year":"1996","journal-title":"Blood"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1067\/mob.2001.117670","article-title":"A novel X chromosome\u2013linked genetic cause of recurrent spontaneous abortion","volume":"185","author":"Lanasa","year":"2001","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/S0960-8966(03)00067-1","article-title":"X-inactivation patterns in carriers of X-linked myotubular myopathy","volume":"13","author":"Kristiansen","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"ref_125","first-page":"1092","article-title":"Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome","volume":"85","author":"Lorenzo","year":"2000","journal-title":"Haematologica"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1111\/j.1365-2516.2008.01786.x","article-title":"Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B","volume":"14","author":"Okumura","year":"2008","journal-title":"Haemophilia"},{"key":"ref_127","first-page":"581","article-title":"Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita","volume":"60","author":"Devriendt","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.oret.2019.11.010","article-title":"X-Chromosome inactivation is a biomarker of clinical severity in female carriers of rpgr-associated x-linked retinitis pigmentosa","volume":"4","author":"Fahim","year":"2020","journal-title":"Ophthalmol. Retin."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0960-8966(93)90042-I","article-title":"Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy","volume":"3","author":"Bushby","year":"1993","journal-title":"Neuromuscul. Disord."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<356::AID-AJMG10>3.0.CO;2-O","article-title":"Absence of Correlation between Skewed X Inactivation in Blood and Serum Creatine-Kinase Levels in Duchenne\/Becker Female Carriers","volume":"80","author":"Sumita","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.nmd.2010.11.001","article-title":"Symptomatic dystrophinopathies in female children","volume":"21","author":"Seemann","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0960-8966(94)00057-G","article-title":"Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers","volume":"5","author":"Matthews","year":"1995","journal-title":"Neuromuscul. Disord."},{"key":"ref_133","first-page":"989","article-title":"Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females","volume":"54","author":"Pegoraro","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1212\/WNL.45.4.677","article-title":"Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei","volume":"45","author":"Pegoraro","year":"1995","journal-title":"Neurology"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1007\/BF02185765","article-title":"X-chromosome methylation ratios as indicators of chromosomal activity: Evidence of intraindividual divergencies among tissues of different embryonal origin","volume":"97","author":"Azofeifa","year":"1996","journal-title":"Hum. Gen."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1469-1809.1973.tb01813.x","article-title":"Primordial cell pool size and lineage relationships of five human cell types","volume":"37","author":"Fialkow","year":"1973","journal-title":"Ann. Hum. Genet."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/ajmg.1320400323","article-title":"Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy","volume":"40","author":"Lupski","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1007\/s00109-005-0656-2","article-title":"Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the \u03b1-galactosidase A gene in the Czech and Slovak population","volume":"83","author":"Dobrovolny","year":"2005","journal-title":"J. Mol. Med."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1080\/08035320600618809","article-title":"Disease manifestations and X inactivation in heterozygous females with Fabry disease","volume":"95","author":"Maier","year":"2006","journal-title":"Acta Paediatr."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","article-title":"X-chromosome inactivation in female patients with Fabry disease","volume":"89","author":"Echevarria","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"103e","DOI":"10.1136\/jmg.40.8.e103","article-title":"Fabry disease: Molecular studies in Italian patients and X inactivation analysis in manifesting carriers","volume":"40","author":"Morrone","year":"2003","journal-title":"J. Med. Genet."},{"key":"ref_142","doi-asserted-by":"crossref","unstructured":"Rossanti, R., Nozu, K., Fukunaga, A., Nagano, C., Horinouchi, T., Yamamura, T., Sakakibara, N., Minamikawa, S., Ishiko, S., and Aoto, Y. (2021). X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay. Clin. Exp. Nephrol., 1\u20137.","DOI":"10.21203\/rs.3.rs-100840\/v1"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1073\/pnas.67.3.1573","article-title":"Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of lesch-nyhan disease and normal cells","volume":"67","author":"Cox","year":"1970","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1126\/science.162.3853.570","article-title":"Hurler and Hunter Syndromes: Mutual correction of the defect in cultured fibroblasts","volume":"162","author":"Fratantoni","year":"1968","journal-title":"Science"},{"key":"ref_145","doi-asserted-by":"crossref","unstructured":"Viggiano, E., Madej-Pilarczyk, A., Carboni, N., Picillo, E., Ergoli, M., Del Gaudio, S., Marchel, M., Nigro, G., Palladino, A., and Politano, L. (2019). X-Linked emery\u2013dreifuss muscular dystrophy: Study of x-chromosome inactivation and its relation with clinical phenotypes in female carriers. Genes, 10.","DOI":"10.3390\/genes10110919"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1161\/CIRCEP.114.002569","article-title":"Pathology and Function of Conduction Tissue in Fabry Disease Cardiomyopathy","volume":"8","author":"Frustaci","year":"2015","journal-title":"Circ Arrhythm Electrophysiol."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/14\/7663\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:31:20Z","timestamp":1760164280000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/14\/7663"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,17]]},"references-count":146,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2021,7]]}},"alternative-id":["ijms22147663"],"URL":"https:\/\/doi.org\/10.3390\/ijms22147663","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,17]]}}}