Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response

Autor: Vatanavicharn, Nithiwat, Yamada, Kenji, Aoyama, Yuka, Fukao, Toshiyuki, Densupsoontorn, Narumon, Jirapinyo, Pipop, Sathienkijkanchai, Achara, Yamaguchi, Seiji, Wasant, Pornswan
Zdroj: In Brain and Development August 2015 37(7):698-703
Databáze: ScienceDirect