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

MOLECULAR GENETICS AND METABOLISM REPORTS Volume 24 published_at 2020-09

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Title	Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
Creator	BO Ryosuke Musha Ikuma YAMADA Kenji Kobayashi Hironori HASEGAWA Yuki Awano Hiroyuki Arao Masato Kikuchi Toru Taketani Takeshi Ohtake Akira Yamaguchi Seiji Iijima Kazumoto
Source Title	MOLECULAR GENETICS AND METABOLISM REPORTS
Volume	24
Journal Identifire	EISSN 2214-4269
Subjects	Carnitine palmitoyltransferase II deficiency; Metabolic decompensation; Fatty acid oxidation disorders; Sudden unexpected death in infancy (SUDI) ( Other)
Language	eng
Resource Type	journal article
Publisher	ELSEVIER
Date of Issued	2020-09
Access Rights	metadata only access
Relation	[DOI] 10.1016/j.ymgmr.2020.100611 [PMID] 32489884
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.