两名患有异戊酸血症的姐妹，多次发生酮症酸中毒，发育正常。
Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development.
作者信息
Duran M, van Sprang F J, Drewes J G, Bruinvis L, Ketting D, Wadman S K
出版信息
Eur J Pediatr. 1979 Jun 28;131(3):205-11. doi: 10.1007/BF00538944.
PMID:477679
Abstract
Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.
摘要
本文描述了两名患有异戊酸血症的姐妹。两人均多次出现丙酮血性呕吐发作，有时会导致亚昏迷状态。尽管如此，她们的智力发育完全正常。文中还介绍了生化研究、临床随访及治疗尝试情况。
Zotero 插件