{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T16:32:55Z","timestamp":1749227575640},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2009,1,29]],"date-time":"2009-01-29T00:00:00Z","timestamp":1233187200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1186\/1752-1947-3-31","type":"journal-article","created":{"date-parts":[[2009,1,29]],"date-time":"2009-01-29T19:19:24Z","timestamp":1233256764000},"source":"Crossref","is-referenced-by-count":7,"title":["Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report"],"prefix":"10.1186","volume":"3","author":[{"given":"Ibrar","family":"Ahmed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanh Trung","family":"Phan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham W","family":"Lipkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Frenneaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,1,29]]},"reference":[{"key":"844_CR1","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1515\/bchm2.1903.38.5-6.557","volume":"38","author":"E Abderhalden","year":"1903","unstructured":"Abderhalden E: Familiare Cystindiathese. Z Physiol Chem. 1903, 38: 557-561.","journal-title":"Z Physiol Chem"},{"key":"844_CR2","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/ng0695-246","volume":"10","author":"A Geraldine","year":"1995","unstructured":"Geraldine A: Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group. Nat Genet. 1995, 10: 246-248. 10.1038\/ng0695-246.","journal-title":"Nat Genet"},{"key":"844_CR3","doi-asserted-by":"publisher","first-page":"1461","DOI":"10.1056\/NEJM198812013192206","volume":"319","author":"WA Gahl","year":"1988","unstructured":"Gahl WA, Dalakas MC, Charnas L, Chen KT, Pezeshkpour GH, Kuwabara T, Davis SL, Chesney RW, Fink J, Hutchison HT: Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl J Med. 1988, 319: 1461-1464.","journal-title":"N Engl J Med"},{"key":"844_CR4","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/1471-2369-3-8","volume":"3","author":"MP Dixit","year":"2002","unstructured":"Dixit MP, Greifer I: Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up. BMC Nephrol. 2002, 3: 8-10.1186\/1471-2369-3-8.","journal-title":"BMC Nephrol"},{"key":"844_CR5","doi-asserted-by":"publisher","first-page":"1639","DOI":"10.1056\/NEJMoa021737","volume":"348","author":"AW Nugent","year":"2003","unstructured":"Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG, National Australian Childhood Cardiomyopathy Study: The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003, 348: 1639-1646. 10.1056\/NEJMoa021737.","journal-title":"N Engl J Med"},{"key":"844_CR6","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1136\/pgmj.2006.046169","volume":"82","author":"C Stollberger","year":"2006","unstructured":"Stollberger C, Finsterer J: Pitfalls in the diagnosis of left ventricular hypertrabeculation\/non-compaction. Postgrad Med J. 2006, 82: 679-683. 10.1136\/pgmj.2006.046169.","journal-title":"Postgrad Med J"},{"key":"844_CR7","doi-asserted-by":"publisher","first-page":"26","DOI":"10.4065\/72.1.26","volume":"72","author":"M Ritter","year":"1997","unstructured":"Ritter M, Oechslin E, Sutsch G, Attenhofer C, Schneider J, Jenni R: Isolated noncompaction of the myocardium in adults. Mayo Clin Proc. 1997, 72: 26-31. 10.4065\/72.1.26.","journal-title":"Mayo Clin Proc"},{"key":"844_CR8","doi-asserted-by":"publisher","first-page":"2720","DOI":"10.1161\/01.CIR.0000131865.21260.56","volume":"109","author":"S Sasse-Klaassen","year":"2004","unstructured":"Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, N\u00fcrnberg P, Heuser A, Jenni R, Hennies HC, Thierfelder L: Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation. 2004, 109: 2720-2723. 10.1161\/01.CIR.0000131865.21260.56.","journal-title":"Circulation"},{"key":"844_CR9","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/S1096-7192(02)00195-6","volume":"77","author":"R Chen","year":"2002","unstructured":"Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA, Noncompaction study collaborators: Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab. 2002, 77: 319-325. 10.1016\/S1096-7192(02)00195-6.","journal-title":"Mol Genet Metab"},{"key":"844_CR10","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1161\/01.CIR.82.2.507","volume":"82","author":"TK Chin","year":"1990","unstructured":"Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R: Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990, 82: 507-513.","journal-title":"Circulation"},{"key":"844_CR11","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/S0002-9149(02)02723-6","volume":"90","author":"C Stollberger","year":"2002","unstructured":"Stollberger C, Finsterer J, Blazek G: Left ventricular hypertrabeculation\/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol. 2002, 90: 899-902. 10.1016\/S0002-9149(02)02723-6.","journal-title":"Am J Cardiol"},{"key":"844_CR12","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/S0735-1097(00)00755-5","volume":"36","author":"EN Oechslin","year":"2000","unstructured":"Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R: Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000, 36: 493-500. 10.1016\/S0735-1097(00)00755-5.","journal-title":"J Am Coll Cardiol"},{"key":"844_CR13","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/S0735-1097(99)00170-9","volume":"34","author":"F Ichida","year":"1999","unstructured":"Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, Hamada H, Hirose O, Isobe T, Yamada K, Kurotobi S, Mito H, Miyake T, Murakami Y, Nishi T, Shinohara M, Seguchi M, Tashiro S, Tomimatsu H: Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. 1999, 34: 233-240. 10.1016\/S0735-1097(99)00170-9.","journal-title":"J Am Coll Cardiol"},{"key":"844_CR14","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1136\/heart.86.6.666","volume":"86","author":"R Jenni","year":"2001","unstructured":"Jenni R, Oechslin E, Schneider J, Attenhofer JC, Kaufmann PA: Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001, 86: 666-671. 10.1136\/heart.86.6.666.","journal-title":"Heart"},{"key":"844_CR15","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1016\/S0894-7317(99)70192-6","volume":"12","author":"Y Agmon","year":"1999","unstructured":"Agmon Y, Connolly HM, Olson LJ, Khandheria BK, Seward JB: Noncompaction of the ventricular myocardium. J Am Soc Echocardiogr. 1999, 12: 859-863. 10.1016\/S0894-7317(99)70192-6.","journal-title":"J Am Soc Echocardiogr"},{"key":"844_CR16","doi-asserted-by":"publisher","first-page":"J323","DOI":"10.1016\/S0735-1097(87)80383-2","volume":"9","author":"MT Boyd","year":"1987","unstructured":"Boyd MT, Seward JB, Tajik AJ, Edwards WD: Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: implications for valuation of mural thrombi by two-dimensional echocardiography. Am Coll Cardiol. 1987, 9: J323-326.","journal-title":"Am Coll Cardiol"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1752-1947-3-31\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-3-31.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-3-31","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-3-31.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,21]],"date-time":"2019-01-21T20:21:57Z","timestamp":1548102117000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/1752-1947-3-31"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1,29]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["844"],"URL":"https:\/\/doi.org\/10.1186\/1752-1947-3-31","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1,29]]},"article-number":"31"}}