Art

J-GLOBAL ID：201902248881407377   Reference number：19A2108110

Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy

原発性カルニチン欠乏症:稀な可逆性代謝性心筋症【JST・京大機械翻訳】

Author (3)： Tomlinson Stephen (Department of Cardiology, Royal Brisbane and Women’s Hospital, Cnr Butterfield St and Bowen Bridge Road, Herston, QLD 4029, Australia) ,  Atherton John (Department of Cardiology, Royal Brisbane and Women’s Hospital, Cnr Butterfield St and Bowen Bridge Road, Herston, QLD 4029, Australia) ,  Prasad Sandhir (Department of Cardiology, Royal Brisbane and Women’s Hospital, Cnr Butterfield St and Bowen Bridge Road, Herston, QLD 4029, Australia)
Material： Case Reports in Cardiology (Web)
Volume： 2018  Page： Null  Publication year： 2018 
JST Material Number： U7834A  ISSN： 2090-6404  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： A 24-year-old female with a di...

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Thesaurus term： *cardiomyopathy ,  adult (person) ,  *Metabolism ,  therapy ,  human ,  adhesion (disease) ,  Pediatrics ,  *reversibility ,  metabolic error ,  echocardiography ,  woman ,  case report ,  Right ventricle ,  ejection fraction ,  contractile function ,  aliphatic amine ,  aliphatic alcohol ,  aliphatic carboxylic acid ,  aminoalcohol ,  aminocarboxylic acid ,  tertiary amine ,  secondary alcohol ,  hydroxy acid
Semi thesaurus term： *レボカルニチン欠乏 , 【Automatic Indexing@JST】

JST classification (2)： Cardiovascular system diagnosis  (GJ02000V) ,  Cardiovascular system diseases  (GJ03000C)

Substance index (1)： Carnitine

Reference (6)：

• A. W. El-Hattab, F. Scaglia, "Disorders of carnitine biosynthesis and transport," Molecular Genetics and Metabolism, vol. 116, no. 3, pp. 107-112, 2015.
• P. L. Magoulas, A. W. El-Hattab, "Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management," Orphanet Journal of Rare Diseases, vol. 7, no. 1, pp. 68, 2012.
• L. Fu, M. Huang, S. Chen, "Primary carnitine deficiency and cardiomyopathy," Korean Circulation Journal, vol. 43, no. 12, pp. 785-792, 2013.
• R. R. Ascunce, A. C. Nayar, C. K. Phoon, M. B. Srichai, "Cardiac magnetic resonance findings in a case of carnitine deficiency," Texas Heart Institute Journal, vol. 40, no. 1, pp. 104-105, 2013.
• S. S. Wang, J. Rao, Y. F. Li, Z. W. Zhang, G. H. Zeng, "Primary carnitine deficiency cardiomyopathy," International Journal of Cardiology, vol. 174, no. 1, pp. 171-173, 2014.

Terms in the title (5)： 原発 ,  カルニチン欠乏症 ,  可逆性 ,  代謝 ,  心筋症