Art

J-GLOBAL ID：200902201257899311   Reference number：08A0006438

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency

3-メチルクロトニルCoAカルボキシラーゼ欠損症の日本人患者5名における新規変異

Author (18)： UEMATSU Mitsugu (Tohoku Univ. School of Medicine, Sendai, JPN) ,  SAKAMOTO Osamu (Tohoku Univ. School of Medicine, Sendai, JPN) ,  SUGAWARA Noriko (Tohoku Univ. School of Medicine, Sendai, JPN) ,  KUMAGAI Naonori (Tohoku Univ. School of Medicine, Sendai, JPN) ,  MORIMOTO Tetsuji (Tohoku Univ. School of Medicine, Sendai, JPN) ,  YAMAGUCHI Seiji (Shimane Univ. School of Medicine, Shimane, JPN) ,  HASEGAWA Yuki (Shimane Univ. School of Medicine, Shimane, JPN) ,  KOBAYASHI Hironori (Shimane Univ. School of Medicine, Shimane, JPN) ,  IHARA Kenji (Kyushu Univ., Fukuoka, JPN) ,  YOSHINO Makoto (Kurume Univ. School of Medicine, Kurume, JPN) ,  WATANABE Yoriko (Kurume Univ. School of Medicine, Kurume, JPN) ,  INOKUCHI Takahiro (Kurume Univ. School of Medicine, Kurume, JPN) ,  YOKOYAMA Takato (St Mary’s Hospital, Kurume, JPN) ,  KIWAKI Kohji (Kumamoto Univ. School of Medicine, Kumamoto, JPN) ,  NAKAMURA Kimitoshi (Kumamoto Univ. School of Medicine, Kumamoto, JPN) ,  ENDO Fumio (Kumamoto Univ. School of Medicine, Kumamoto, JPN) ,  TSUCHIYA Shigeru (Tohoku Univ. School of Medicine, Sendai, JPN) ,  OHURA Toshihiro (Tohoku Univ. School of Medicine, Sendai, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 52  Issue： 12  Page： 1040-1043  Publication year： 2007 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *3-メチルクロトニルCoAカルボキシラーゼ欠損症 ,...

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JST classification (2)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Molecular genetics in general  (EC02010J)

Reference (14)：

• BAUMGARTNER, MR. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest. 2001, 107, 495-504
• FICICIOGLU, C. 3-Methylcrotonyl-CoA carboxylase deficiency : metabolic decompensation in a noncompliant child detected through newborn screening. Pediatrics. 2006, 118, 2555-2556
• FRIEBEL, D. The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. Neuropediatrics. 2006, 37, 72-78
• GALLARDO, ME. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am J Hum Genet. 2001, 68, 334-346
• HOLZINGER, A. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA : carboxylase deficiency. Hum Mol Genet. 2001, 10, 1299-1306

Terms in the title (4)： 3-メチルクロトニルCoAカルボキシラーゼ欠損症 ,  日本人 ,  患者 ,  変異