Zobrazeno 1 - 2
of 2
pro vyhledávání: '"CTLN1, citrullinemia type I"'
Autor:
Georg F. Hoffmann, Takeshi Taketani, Naoaki Shibata, Dong Hwan Lee, Seiji Yamaguchi, Nguyen Ngoc Khanh, Toshiyuki Fukao, Yuki Hasegawa, Yosuke Shigematsu, Vu Chi Dung, Ishwar C. Verma, Dau-Ming Niu, Seiji Fukuda, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Sunita Bijarnia-Mahay, Kenji Yamada
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 5-10 (2018)
Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 5-10 (2018)
Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c1e903da838e7af8e393c2d73bbb746
http://europepmc.org/articles/PMC6014585
http://europepmc.org/articles/PMC6014585
Autor:
Shibata N; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Hasegawa Y; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Yamada K; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Kobayashi H; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Purevsuren J; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan.; Medical Genetics Laboratory, National Center for Maternal and Child Health, Khuvisgalchdyn Street, Bayangol District, Ulaanbaatar 16060, Mongolia., Yang Y; Department of Pediatrics, Peking University First Hospital, No.1, Xi-an-men Road, Xicheng District, Beijing 100034, China., Dung VC; Center for Newborn Screening and Rare Disease, Department of Medical Genetics Metabolism and Endocrinology, Vietnam National Children's Hospital, No.18/879, La Thanh Road, Dong Da District, Hanoi, Viet Nam.; Department of Pediatrics, Hanoi Medical University. Hanoi, Viet Nam., Khanh NN; Center for Newborn Screening and Rare Disease, Department of Medical Genetics Metabolism and Endocrinology, Vietnam National Children's Hospital, No.18/879, La Thanh Road, Dong Da District, Hanoi, Viet Nam.; Department of Pediatrics, Hanoi Medical University. Hanoi, Viet Nam., Verma IC; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India., Bijarnia-Mahay S; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India., Lee DH; Department of Pediatrics, Soon Chun Hyang University Hospital, 59, Daesagwan-ro, Yongsan-gu, Seoul 04401, Republic of Korea., Niu DM; Institute of Clinical Medicine, National Yang-Ming University, Medical Science & Technology Building 8F, No.201, Sec.2, Shih-Pai Road, Taipei 112, Taiwan, ROC., Hoffmann GF; Department of Pediatrics, University of Heidelberg, University Children Hospital, Im Neuenheimer Field 669, Heidelberg D-69120, Germany., Shigematsu Y; Department of Pediatrics, School of Medical Sciences, University of Fukui, 23 Shimogogetsu, Matsuoka, Eiheiji-cho, Fukui 910-1193, Japan., Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1, Yanagido, Gifu 501-1194, Japan., Fukuda S; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Taketani T; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Yamaguchi S; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2018 May 21; Vol. 16, pp. 5-10. Date of Electronic Publication: 2018 May 21 (Print Publication: 2018).