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

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

• Book ID: 113498763
• Publisher: Elsevier Science
• Year: 2010
• Tongue: English
• Weight: 153 KB
• Volume: 32
• Category: Article
• ISSN: 0387-7604
• DOI: 10.1016/j.braindev.2009.03.004