{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:02:58Z","timestamp":1767916978577,"version":"3.49.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T00:00:00Z","timestamp":1618012800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T00:00:00Z","timestamp":1618012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP17055"],"award-info":[{"award-number":["GGP17055"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007343","name":"Shire","doi-asserted-by":"publisher","award":["002522"],"award-info":[{"award-number":["002522"]}],"id":[{"id":"10.13039\/100007343","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Aim<\/jats:title>\n                <jats:p>To investigate the contribution of unaffected cardiomyocytes in Fabry disease cardiomyopathy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Findings<\/jats:title>\n                <jats:p>Left ventricular (LV) endomyocardial biopsies from twenty-four females (mean age 53\u2009\u00b1\u200911 ys) with Fabry disease cardiomyopathy were studied. Diagnosis of FD was based on the presence of pathogenic GLA mutation, Patients were divided in four groups according with LV maximal wall thickness (MWT): group 1 MWT\u2009\u2264\u200910.5\u00a0mm, group 2 MWT 10.5\u201315\u00a0mm, group 3 MWT 16\u201320\u00a0mm, group 4 MWT\u2009&gt;\u200920\u00a0mm. At histology mosaic of affected and unaffected cardiomyocytes was documented. Unaffected myocytes\u2019 size ranged from normal to severe hypertrophy. Hypertrophy of unaffected cardiomyocytes correlated with severity of MWT (p\u2009&lt;\u20090.0001, Sperman r 0,95). Hypertrophy of unaffected myocytes appear to concur to progression and severity of FDCM. It is likely a paracrine role from neighboring affected myocytes.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-021-01803-7","type":"journal-article","created":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T12:02:43Z","timestamp":1618056163000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Hypertrophy of unaffected cardiomyocytes correlates with severity of cardiomyopathy in female patients with Fabry disease"],"prefix":"10.1186","volume":"16","author":[{"given":"Cristina","family":"Chimenti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romina","family":"Verardo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5748-0725","authenticated-orcid":false,"given":"Andrea","family":"Frustaci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,4,10]]},"reference":[{"key":"1803_CR1","first-page":"3733","volume-title":"The metabolic and molecular bases of inherited disease","author":"RJ Desnick","year":"2001","unstructured":"Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase a deficiency: Fabry disease . In: Scriver CR, Beaudet AI, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hall; 2001. p. 3733\u201374."},{"key":"1803_CR2","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/B978-0-12-449851-8.00035-8","volume-title":"Genetic diseases of the kidney","author":"RJ Desnick","year":"2009","unstructured":"Desnick RJ. Fabry\u2019s disease (\u03b1Galactosidase A Deficiency): an X-linked nephropathy. In: Lifton R, Somlo S, Giebisch G, Seldin D, editors. Genetic diseases of the kidney. San Diego: Elsevier Academic Press; 2009. p. 597\u2013616."},{"key":"1803_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain DP. Fabry disease. 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