AB017. Gene panel study for target metabolic diseases of newborn screening in Japan

BACKGROUND: Newborn screening (NBS) using tandem mass spectrometry has been performed since 2014 in all over Japan and the target metabolic diseases (TMDs) increased from 4 to at least 17 diseases. Molecular diagnosis for TMDs is not commercially available in Japan and until recently such molecular...

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Bibliografiske detaljer
Udgivet i:Ann Transl Med
Main Authors: Sasai, Hideo, Fujiki, Ryoji, Ohara, Osamu, Nakajima, Yoko, Ito, Tetsuya, Kobayashi, Masahisa, Tajima, Go, Sakamoto, Osamu, Matsumoto, Shiro, Nakamura, Kimitoshi, Hamazaki, Takashi, Hasegawa, Yuki, Kobayashi, Hironori, Fukao, Toshiyuki
Format: Artigo
Sprog:Inglês
Udgivet: AME Publishing Company 2017
Fag:
Newborn Screening, Inborn Errors of Metabolism
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641800/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s017
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