Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates

Callum J. Wilson,Michael Myer,Brian A. Darlow,Thorsten Stanley,Glen Thomson,E. Regula Baumgartner,Denise M. Kirby,David R. Thorburn

The Journal of Pediatrics（2005）

引用 19|浏览18

暂无评分

摘要

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

查看译文

关键词

ACC,HCS,MCC,PC,PCC

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要