Sonia Roca-Esteve

Decoding the Rare: Integrative Genomics, Predictive Algorithms and Lipidomics as a Guide for in Lysosomal Storage Disorder Research

BACKGROUND: Lysosomal storage disorders (LSDs) are rare, inherited metabolic conditions characterized by the accumulation of undegraded substrates within lysosomes, leading to progressive multisystemic disease. Clinical and genetic heterogeneity poses significant diagnostic and t...