Ontology highlight
ABSTRACT:
SUBMITTER: La Cognata V
PROVIDER: S-EPMC7465195 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
La Cognata Valentina V Guarnaccia Maria M Polizzi Agata A Ruggieri Martino M Cavallaro Sebastiano S
Cells 20200814 8
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome. Although the cellular pathogenesis of LSDs is complex and still not fully understood, the approval of disease-specific therapies and the rapid emergence of novel diagnostic methods led to the implementation of extensive national newborn screening (NBS) programs in severa ...[more]