Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency

Atsushi Morita, Takashi Enokizono, Tatsuyuki Ohto, Mai Tanaka, S. Watanabe, Yui Takada, Kazuhiro Iwama, Takeshi Mizuguchi, Naomichi Matsumoto, Masashi Morita, Shigeo Takashima, Nobuyuki Shimozawa, Hidetoshi Takada