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J-GLOBAL ID：201702239398724300   Reference number：17A1023677

A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth

出生直後のアシルカルニチン分析による影響として最初に見たカルニチンパルミトイルトランスフェラーゼII欠損症の新生児例【Powered by NICT】

Author (8)： Yamada Kenji (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan) ,  Bo Ryosuke (Department of Pediatrics, Kobe University School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan) ,  Kobayashi Hironori (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan) ,  Hasegawa Yuki (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan) ,  Ago Mako (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan) ,  Fukuda Seiji (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan) ,  Yamaguchi Seiji (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan) ,  Taketani Takeshi (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan)
Material： Molecular Genetics and Metabolism Reports
Volume： 11  Page： 59-61  Publication year： 2017 
JST Material Number： W2993A  ISSN： 2214-4269  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Carnitine palmitoyltransferase...

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Thesaurus term： Pregnancy ,  Early Diagnosis ,  Tandem Mass Spectrometry ,  Serum ,  autosome ,  Neonatal Screening ,  patient ,  *neonate ,  long chain ,  *carnitine O-palmitoyltransferase ,  gene ,  fatty acid oxidation ,  *Live Birth ,  Genetic Variation
Semi thesaurus term： variation(biology) ,  *アシルカルニチン , 【Automatic Indexing@JST】

Author keywords (5)： Carnitine palmitoyltransferase deficiency ,  Tandem mass spectrometry ,  Newborn screening ,  False negative ,  Serum acylcarnitine

JST classification (2)： Diagnostics of metabolic diseases,nutritional diseases.  (GD05020U) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Terms in the title (5)： 出生 ,  アシルカルニチン ,  分析 ,  カルニチンパルミトイルトランスフェラーゼII欠損症 ,  新生児