Article
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Molecular genetics and metabolism - 1 May 2016
Hara Keiichi, Tajima Go, Okada Satoshi, Tsumura Miyuki, Kagawa Reiko, Shirao Kenichiro, Ohno Yoshinori, Yasunaga Shin'ichiro, Ohtsubo Motoaki, Hata Ikue, Sakura Nobuo, Shigematsu Yosuke, Takihara Yoshihiro, Kobayashi Masao
Abstract excerpt
BACKGROUND: Since the first case was detected in 2000, there has been a remarkable increase in Japanese patients diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Genetic analysis has revealed a spectrum of mutations that is quite different from those observed in Caucasian populations. In 2014, Japan initiated nationwide newborn screening (NBS) for MCAD using tandem mass spectrometry (MS/MS)....
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