两例I型化症病例和一篇文献综述

Yuan Ding1,2, Ming Cheng1,2, Chunxiu Gong3,4

  • 1Department of Endocrinology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Genetics, Metabolism, Beijing, 100045, China.

PubMed
概括

这项研究详细介绍了两名患有I型化症的中国儿童,强调了临床和遗传发现. 对NEU1基因分析对于早期诊断和化病患者的遗传咨询至关重要.