Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Authors: Jun‐ichi Nezu, Ikumi Tamai, Asuka Oku, Rikiya Ohashi, Hikaru Yabuuchi, Noriyoshi Hashimoto, Hiroko Nikaido, Yoshimichi Sai, Akio Koizumi, Yutaka Shoji, Goro Takada, Toyojiro Matsuishi, Makoto Yoshino, Hirohisa Kato, Toshihiro Ohura, Gozoh Tsujimoto, Jun-ichiro Hayakawa, Miyuki Shimane, Akira Tsuji - Nature Genetics 1999 cited by 559