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

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Use this link to cite this item : https://ir.lib.shimane-u.ac.jp/53345

language	eng
Author	YAMADA, Kenji Bo Ryosuke Department of Pediatrics, Kobe University School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan Kobayashi, Hironori HASEGAWA, Yuki AGO, Mako FUKUDA, Seiji Yamaguchi, Seiji Taketani, Takeshi
Subject	Carnitine palmitoyltransferase deficiency; Tandem mass spectrometry; Newborn screening; False negative; Serum acylcarnitine
Journal Title	MOLECULAR GENETICS AND METABOLISM REPORTS
Volume	11
Start Page	59
End Page	61
ISSN	2214-4269
Published Date	2017-06
DOI	10.1016/j.ymgmr.2017.04.008
PubMed ID	28516040
Publisher	ELSEVIER SCIENCE BV
NII Type	Journal Article
OAI-PMH Set	Faculty of Medicine
Remark	This study was supported by JSPS KAKENHI (grant numbers JP16K21179).