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Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
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 popular but has not yet been introduced in many Asi...
Autores principales: | Shibata, Naoaki, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Purevsuren, Jamiyan, Yang, Yanling, Dung, Vu Chi, Khanh, Nguyen Ngoc, Verma, Ishwar C., Bijarnia-Mahay, Sunita, Lee, Dong Hwan, Niu, Dau-Ming, Hoffmann, Georg F., Shigematsu, Yosuke, Fukao, Toshiyuki, Fukuda, Seiji, Taketani, Takeshi, Yamaguchi, Seiji |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014585/ https://www.ncbi.nlm.nih.gov/pubmed/29946514 http://dx.doi.org/10.1016/j.ymgmr.2018.05.003 |
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