Fu L

Clinical characteristics and influencing factors of children with MT-TL1 gene m.3243 A > G mutation: a phenotypic study based on 11 Han Chinese patients

The m.3243 A > G mutation in the MT-TL1 gene is one of the most common mitochondrial DNA variants, associated with a broad range of clinical phenotypes. While its manifestations in adults have been widely reported, data on pediatric presentations remain limited, particularly in A...

Platelet miRNAs for early diagnosis of Kawasaki disease: development and internal validation of a clinical model

Early diagnosis of Kawasaki disease (KD) remains challenging, particularly in incomplete or early-stage cases, increasing the risk of coronary artery complications. Platelet-derived microRNAs (miRNAs) are implicated in KD pathogenesis, but standardized normalization and validated...