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A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibro\u2010blasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with het\u2010erozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.<\/jats:p>","DOI":"10.1002\/clc.4960190320","type":"journal-article","created":{"date-parts":[[2009,2,4]],"date-time":"2009-02-04T08:08:34Z","timestamp":1233734914000},"page":"243-246","source":"Crossref","is-referenced-by-count":28,"title":["Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter"],"prefix":"10.1002","volume":"19","author":[{"given":"Michael J.","family":"Bennett","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel E.","family":"Hale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodney J.","family":"Pollitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sadick","family":"Variend","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles A.","family":"Stanley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,4]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1983.63.4.1420"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82532-6"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300512"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1542\/peds.87.3.328","article-title":"Hypoglycemia, hypotonia and cardiomyopathy: The evolving clinical picture of long\u2010chain acyl\u2010CoA dehydrogenase deficiency","volume":"87","author":"Treem W","year":"1991","journal-title":"Pediatrics"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799383"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198809000-00006"},{"key":"e_1_2_1_8_2","first-page":"305","article-title":"Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: A treatable cardiomyopathy","volume":"981","author":"Tripp ME","journal-title":"N Engl J Med"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0022-2275(20)36985-6","article-title":"An improved and simplified radioiso\u2010topic assay for the determination of free and esterified carnitine","volume":"17","author":"McGarry JD","year":"1976","journal-title":"J Lipid Res"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198811173192006"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199009000-00020"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710422"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711777"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80294-1"},{"key":"e_1_2_1_15_2","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0065-3101(24)00116-6","article-title":"Carnitine disorders","volume":"42","author":"Stanley CA","year":"1995","journal-title":"Adv Pediatr"}],"container-title":["Clinical Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fclc.4960190320","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/clc.4960190320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,9]],"date-time":"2024-03-09T23:59:04Z","timestamp":1710028744000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/clc.4960190320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,3]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1996,3]]}},"alternative-id":["10.1002\/clc.4960190320"],"URL":"https:\/\/doi.org\/10.1002\/clc.4960190320","archive":["Portico"],"relation":{},"ISSN":["0160-9289","1932-8737"],"issn-type":[{"value":"0160-9289","type":"print"},{"value":"1932-8737","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,3]]}}}