Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening

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Use this link to cite this item : https://ir.lib.shimane-u.ac.jp/52679

language	eng
Author	BO, Ryosuke Musha, Ikuma Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan YAMADA, Kenji Kobayashi, Hironori HASEGAWA, Yuki Awano, Hiroyuki Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan Arao, Masato Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan Kikuchi, Toru Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan Taketani, Takeshi Ohtake, Akira Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan Yamaguchi, Seiji Iijima, Kazumoto Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan
Subject	Carnitine palmitoyltransferase II deficiency; Metabolic decompensation; Fatty acid oxidation disorders; Sudden unexpected death in infancy (SUDI)
Journal Title	MOLECULAR GENETICS AND METABOLISM REPORTS
Volume	24
ISSN（Online）	2214-4269
Published Date	2020-09
DOI	10.1016/j.ymgmr.2020.100611
PubMed ID	32489884
Publisher	ELSEVIER
NII Type	Journal Article
OAI-PMH Set	Faculty of Medicine
Remark	We thank Ms. M. Furui, K. Konada, H. Kajitani, and T. Esumi (Department of Pediatrics, Shimane University) for their technical assistance. We also thank Dr. Go Tajima (Division of Neonatal Screening, Research Institute, National Center for Child Health and Development) for assisting with CPTII enzyme assay. This research was partially supported by Grant Number 15K09593 (Chief Investigator: Seiji Yamaguchi) and 19K17298 (Chief Investigator: Ryosuke Bo) from the Ministry of Health, Labor and Welfare of Japan.