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Systemic metabolic remodeling in mucopolysaccharidosis revealed by untargeted urinary metabolomics
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. Untargeted urinary metabolomics was performed using...
Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.
By incorporating growth data from childhood, this study construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities in pediatric NF1, and expands the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.