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A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency

3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency is an inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in an organic acidopathy. In 1994, a case of dilated cardiomyopathy and fatal arrhythmia was reported in a 7-month-old infant....

詳細記述

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書誌詳細
主要な著者: Leung, Alexander A. C., Chan, Alicia K., Ezekowitz, Justin A., Leung, Alexander K. C.
フォーマット: Artigo
言語:Inglês
出版事項: Hindawi Publishing Corporation 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2773375/
https://ncbi.nlm.nih.gov/pubmed/19893767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2009/183125
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