Art

J-GLOBAL ID：201402232967536156   Reference number：14A0655196

Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy

カルニチンパルミトイルトランスフェラーゼ2遺伝子多型は,幼児期の突然死の遺伝的危険因子である

Author (10)： YAMAMOTO Takuma (Div. of Forensic Pathology and Sci., Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School ...) ,  YAMAMOTO Takuma (Dep. of Legal Medicine, Osaka Univ. Graduate School of Medicine, JPN) ,  TANAKA Hidekazu (Lab. of Pharmacology, Dep. of Biomedical Sciences, Coll. of Life Sciences, Ritsumeikan Univ., JPN) ,  EMOTO Yuko (Dep. of Legal Medicine, Osaka Univ. Graduate School of Medicine, JPN) ,  UMEHARA Takahiro (Div. of Forensic Pathology and Sci., Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School ...) ,  FUKAHORI Yuki (Div. of Forensic Pathology and Sci., Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School ...) ,  FUKAHORI Yuki (Forensic Sci. Lab., Nagasaki Prefectural Police Headquarters, JPN) ,  KURIU Yukiko (Dep. of Legal Medicine, Osaka Univ. Graduate School of Medicine, JPN) ,  MATOBA Ryoji (Dep. of Legal Medicine, Osaka Univ. Graduate School of Medicine, JPN) ,  IKEMATSU Kazuya (Div. of Forensic Pathology and Sci., Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School ...)
Material： Brain & Development  (Brain & Dev)
Volume： 36  Issue： 6  Page： 479-483  Publication year： Jun. 2014 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： CPT2 ,...

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JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Diseases specific to children  (GC08020M)

Reference (19)：

• Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, et al. Carnitine palmitoyltransferase deficiencies. Mol Genet Metab 1999;68:424-40.
• Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest 2003;83:1543-54.
• Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004;25:495-520.
• Hug G, Bove KE, Soukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 1991;325:1862-4.
• Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 1991;87:859-64.

Terms in the title (5)： カルニチンパルミトイルトランスフェラーゼ ,  遺伝子多型 ,  幼児期 ,  突然死 ,  遺伝的危険因子