NPC

Tatiana Brémovà-Ertl1, Sabina Tahirovic2, Silva Katušić Hećimović3

  • 1Department of Neurology, Department of Neuropediatrics and Center for Rare Diseases, University Hospital Inselspital, Bern, Switzerland.

Frontiers in neurology
|August 28, 2025
PubMed
概括

携带一种NPC基因变异的尼曼-皮克病C型 (NPC) 携带者可能会出现症状. 了解NPC异构性是诊断,监测和早期干预携带者和受影响个体的关键.