萨摩亚新生儿的严重羧化全酶合成酶缺乏伴不完全生物素反应引起出生前损害

摘要

We describe 7 Polynesian babies with a unique severe form of holocarboxylase synthetase deficiency characterized by antenatal growth retardation, subependymal cysts, only partial response to biotin, and a poor outcome.