Biyun Feng

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...

Systemic metabolic remodeling in mucopolysaccharidosis revealed by untargeted urinary metabolomics

Abstract Background Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by glycosaminoglycan (GAG) accumulation and progressive multi-organ dysfunction. However, the systemic metabolic consequences of lysosomal dysfunction remain incompletely defined. Method...