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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言語	英語
著者	坊亮輔 Musha, Ikuma Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan 山田健治小林弘典長谷川有紀 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 竹谷健 Ohtake, Akira Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan 山口清次 Iijima, Kazumoto Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan
主題	Carnitine palmitoyltransferase II deficiency; Metabolic decompensation; Fatty acid oxidation disorders; Sudden unexpected death in infancy (SUDI)
掲載誌名	MOLECULAR GENETICS AND METABOLISM REPORTS
巻	24
ISSN（Online）	2214-4269
発行日	2020-09
DOI	10.1016/j.ymgmr.2020.100611
PubMed ID	32489884
出版者	ELSEVIER
資料タイプ	学術雑誌論文
部局	医学部
備考	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.