Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan

Rie Tsuburaya, Osamu Sakamoto, Natsuko Arai, Hironori Kobayashi, Yuki Hasegawa, Seiji Yamaguchi, Yosuke Shigematsu, Masaki Takayanagi, Toshihiro Ohura, Shigeru Tsuchiya

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