Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
Enrico Moro
Abstract
Lysosomal storage disorders (LSDs) are a group of 60 rare inherited diseases characterized by a heterogeneous spectrum of clinical symptoms, ranging from severe intellectual disabilities, cardiac abnormalities, visceromegaly, and bone deformities to slowly progressive muscle weakness, respiratory insufficiency, eye defects (corneal clouding and retinal degeneration), and skin alterations [...].
Topics & Concepts
Lysosomal storage disordersMedicineWeaknessDegeneration (medical)Retinal degenerationSubstrate reduction therapyMuscle weaknessPathologyBioinformaticsNeuroscienceOphthalmologyRetinalInternal medicineAnatomyBiologyDiseaseEnzyme replacement therapyLysosomal Storage Disorders ResearchCellular transport and secretionCalcium signaling and nucleotide metabolism