{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T11:29:22Z","timestamp":1768476562772,"version":"3.49.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP08167"],"award-info":[{"award-number":["GGP08167"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Human Pathology"],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1016\/j.humpath.2011.09.020","type":"journal-article","created":{"date-parts":[[2012,3,8]],"date-time":"2012-03-08T23:21:46Z","timestamp":1331248906000},"page":"1444-1452","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study"],"prefix":"10.1016","volume":"43","author":[{"given":"Cristina","family":"Chimenti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Padua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Costanza","family":"Pazzaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Morgante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Centurion","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Antuzzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo A.","family":"Russo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Frustaci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.humpath.2011.09.020_bb0005","series-title":"The metabolic and molecular bases of inherited disease","first-page":"3733","article-title":"Alpha-galactosidase a deficiency: Fabry disease","author":"Desnick","year":"2001"},{"key":"10.1016\/j.humpath.2011.09.020_bb0010","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1016\/j.humpath.2011.09.020_bb0015","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","article-title":"Prevalence of Anderson-Fabry disease in male patients with late-onset hypertrophic cardiomyopathy","volume":"105","author":"Sachdev","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.humpath.2011.09.020_bb0020","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1161\/01.CIR.0000139847.74101.03","article-title":"Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy","volume":"110","author":"Chimenti","year":"2004","journal-title":"Circulation"},{"key":"10.1016\/j.humpath.2011.09.020_bb0025","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jjcc.2007.12.001","article-title":"Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study","volume":"51","author":"Takenaka","year":"2008","journal-title":"J Cardiol"},{"key":"10.1016\/j.humpath.2011.09.020_bb0030","doi-asserted-by":"crossref","first-page":"H1009","DOI":"10.1152\/ajpheart.00438.2006","article-title":"Oxidative stress of myosin contributes to skeletal muscle dysfunction in rats with chronic heart failure","volume":"292","author":"Coirault","year":"2007","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"10.1016\/j.humpath.2011.09.020_bb0035","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1378\/chest.126.3.838","article-title":"Inspiratory muscle weakness in diastolic dysfunction","volume":"126","author":"Lavietes","year":"2004","journal-title":"Chest"},{"key":"10.1016\/j.humpath.2011.09.020_bb0040","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/mus.20130","article-title":"Neuropathy and Fabry's disease","volume":"31","author":"Lacomis","year":"2005","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.humpath.2011.09.020_bb0045","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1056\/NEJM200107053450104","article-title":"Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose infusion therapy","volume":"345","author":"Frustaci","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1016\/j.humpath.2011.09.020_bb0050","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.2353\/ajpath.2008.070576","article-title":"Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease","volume":"172","author":"Chimenti","year":"2008","journal-title":"Am J Pathol"},{"key":"10.1016\/j.humpath.2011.09.020_bb0055","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.jhsa.2006.11.008","article-title":"Use of the Medical Research Council muscle strength grading system in the upper extremity","volume":"32","author":"James","year":"2007","journal-title":"J Hand Surg Am"},{"key":"10.1016\/j.humpath.2011.09.020_bb0060","doi-asserted-by":"crossref","first-page":"2212","DOI":"10.1212\/WNL.42.11.2212","article-title":"Needle muscle biopsy with the automatic Biopty instrument","volume":"42","author":"Cot\u00e9","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.humpath.2011.09.020_bb0065","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1016\/j.clinph.2010.02.150","article-title":"Prevalent involvement of thenar motor fibres in vineyard workers with carpal tunnel syndrome","volume":"121","author":"Mondelli","year":"2010","journal-title":"Clin Neurophysiol"},{"key":"10.1016\/j.humpath.2011.09.020_bb0070","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/S0960-8966(98)00114-X","article-title":"Correlation of muscle fiber type measurements with clinical and molecular genetic data in Duchenne muscular dystrophy","volume":"9","author":"Wang","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.humpath.2011.09.020_bb0075","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1161\/CIRCHEARTFAILURE.108.769729","article-title":"Angina in Fabry disease reflects coronary small vessels disease","volume":"1","author":"Chimenti","year":"2008","journal-title":"Circ Heart Fail"},{"key":"10.1016\/j.humpath.2011.09.020_bb0080","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/BF00296520","article-title":"A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier","volume":"90","author":"Uchino","year":"1995","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.humpath.2011.09.020_bb0085","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/mus.880040506","article-title":"Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease","volume":"4","author":"Pellissier","year":"1981","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.humpath.2011.09.020_bb0090","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF00688064","article-title":"Ultrastructure of muscle and sensory nerve in Fabry's disease","volume":"38","author":"Tom\u00e9","year":"1977","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.humpath.2011.09.020_bb0095","first-page":"221","article-title":"Fabry's disease (angiokeratoma corporis diffusum). Report of a case with ultrastructural study of the skeletal muscle","volume":"15","author":"Macovei","year":"1977","journal-title":"Neurol Psychiatr (Bucur)"},{"key":"10.1016\/j.humpath.2011.09.020_bb0100","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0022-510X(03)00172-2","article-title":"Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease","volume":"214","author":"Gomes","year":"2003","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.humpath.2011.09.020_bb0105","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/S0140-6736(05)67635-0","article-title":"Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study","volume":"366","author":"Rolfs","year":"2005","journal-title":"Lancet"},{"key":"10.1016\/j.humpath.2011.09.020_bb0110","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1016\/j.humpath.2007.07.001","article-title":"Coronary artery bypass grafting for Fabry's disease: veins more suitable than arteries?","volume":"38","author":"Chimenti","year":"2007","journal-title":"Hum Pathol"},{"key":"10.1016\/j.humpath.2011.09.020_bb0115","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1007\/s00428-008-0586-9","article-title":"Replacement of \u03b1-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients","volume":"452","author":"Keslov\u00e1-Vesel\u00edkov\u00e1","year":"2008","journal-title":"Virchows Arch"},{"key":"10.1016\/j.humpath.2011.09.020_bb0120","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.ceb.2007.09.012","article-title":"Skeletal muscle satellite cells and adult myogenesis","volume":"19","author":"Le Grand","year":"2007","journal-title":"Curr Opin Cell Biol"},{"key":"10.1016\/j.humpath.2011.09.020_bb0125","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1161\/01.ATV.0000209649.60409.38","article-title":"Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition","volume":"26","author":"Barbey","year":"2006","journal-title":"Arterioscler Thromb Vasc Biol"}],"container-title":["Human Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817711004679?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817711004679?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T16:33:14Z","timestamp":1758645194000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0046817711004679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":25,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["S0046817711004679"],"URL":"https:\/\/doi.org\/10.1016\/j.humpath.2011.09.020","relation":{},"ISSN":["0046-8177"],"issn-type":[{"value":"0046-8177","type":"print"}],"subject":[],"published":{"date-parts":[[2012,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study","name":"articletitle","label":"Article Title"},{"value":"Human Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.humpath.2011.09.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}