| タイトル |
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
|
| 著者 |
Musha Ikuma
Awano Hiroyuki
Arao Masato
Kikuchi Toru
Ohtake Akira
Iijima Kazumoto
|
| 収録物名 |
MOLECULAR GENETICS AND METABOLISM REPORTS
|
| 巻 | 24 |
| 収録物識別子 |
EISSN 2214-4269
|
| 主題 | |
| 言語 |
英語
|
| 資源タイプ | 学術雑誌論文 |
| 出版者 |
ELSEVIER
|
| 発行日 | 2020-09 |
| アクセス権 | メタデータのみ |
| 関連情報 |
[DOI] 10.1016/j.ymgmr.2020.100611
[PMID] 32489884
|
| 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. |
