Elleder M
Hlavův I. patologicko-anatomický ústav, 1. lékarské fakulty, Univerzita Karlova, Praha, Czech Republic.
Sb Lek. 1994;95(3):231-8.
A survey is presented of adult type neurometabolic disorders with dominant psychiatric and/or neurological and myopathic symptomatology. Also mentioned are the manifest clinical symptomatology in heterozygous state and asymptomatic or oligosymptomatic clinical pictures in homozygotes.
本文综述了以显著精神症状和/或神经肌肉症状为主的成人型神经代谢障碍。还提到了杂合子状态下的明显临床症状以及纯合子状态下的无症状或症状轻微的临床表现。