{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T12:16:02Z","timestamp":1792498562976,"version":"4.5.0"},"reference-count":63,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,6,22]],"date-time":"2015-06-22T00:00:00Z","timestamp":1434931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>\n                    Fabry disease (\n                    <jats:styled-content style=\"fixed-case\">FD<\/jats:styled-content>\n                    ) is an X\u2010linked genetic disorder caused by the deficient activity of lysosomal \u03b1\u2010galactosidase (\u03b1\u2010Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptomatic to, occasionally, as severely affected as male patients. The aim of this study was to evaluate the existence of skewed X\u2010chromosome inactivation (\n                    <jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>\n                    ) in females with\n                    <jats:styled-content style=\"fixed-case\">FD<\/jats:styled-content>\n                    , its concordance between tissues, and its contribution to the phenotype. Fifty\u2010six females with\n                    <jats:styled-content style=\"fixed-case\">FD<\/jats:styled-content>\n                    were enrolled. Clinical and biological work\u2010up included two global scores [Mainz Severity Score Index (\n                    <jats:styled-content style=\"fixed-case\">MSSI<\/jats:styled-content>\n                    ) and\n                    <jats:styled-content style=\"fixed-case\">DS3<\/jats:styled-content>\n                    ], cardiac magnetic resonance imaging, measured glomerular filtration rate, and measurement of \u03b1\u2010Gal activity.\n                    <jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>\n                    was analyzed in four tissues using\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    methylation studies. Skewed\n                    <jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>\n                    was found in 29% of the study population. A correlation was found in\n                    <jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>\n                    patterns between blood and the other analyzed tissues although some punctual variability was detected. Significant differences in residual \u03b1\u2010Gal levels, severity scores, progression of cardiomyopathy and deterioration of kidney function, depending on the direction and degree of skewing of\n                    <jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>\n                    were evidenced. XCI significantly impacts the phenotype and natural history of FD in females.\n                  <\/jats:p>","DOI":"10.1111\/cge.12613","type":"journal-article","created":{"date-parts":[[2015,5,14]],"date-time":"2015-05-14T04:55:45Z","timestamp":1431579345000},"page":"44-54","source":"Crossref","is-referenced-by-count":387,"title":["X\u2010chromosome inactivation in female patients with Fabry disease"],"prefix":"10.1111","volume":"89","author":[{"given":"L.","family":"Echevarria","sequence":"first","affiliation":[{"name":"Division of Medical Genetics University of Versailles  Montigny France"},{"name":"Assistance Publique\u00a0\u2013\u00a0H\u00f4pitaux de Paris (AP\u2010HP) Referral Center for Fabry Disease and Inherited Disorders of Connective Tissue  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Benistan","sequence":"additional","affiliation":[{"name":"Assistance Publique\u00a0\u2013\u00a0H\u00f4pitaux de Paris (AP\u2010HP) Referral 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