Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.

Xutong ZhaoMeng YuWei ZhangYue HouYun YuanZhaoxia Wang

Published in: Orphanet journal of rare diseases (2024)

This study provided valuable insights into the characteristics and challenges of mitochondrial diseases, which underscores the need for improved awareness, diagnostic efficiency, and comprehensive support for patients and caregivers.

Keyphrases

oxidative stress
ejection fraction
newly diagnosed
palliative care
prognostic factors
patient reported outcomes
risk factors
chronic kidney disease
combination therapy
replacement therapy