Ontology highlight
ABSTRACT:
SUBMITTER: Bellettato CM
PROVIDER: S-EPMC6238258 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Bellettato Cinzia M CM Scarpa Maurizio M
Italian journal of pediatrics 20181116 Suppl 2
The mucopolysaccharidoses (MPS) are a heterogeneous group of in-born metabolic conditions caused by genetic defects that result in the absence or severe deficiency of one of the lysosomal hydrolases responsible for the degradation of glycosaminoglycans (GAGs). Such enzyme deficiency causes accumulation of GAGs that begins in infancy and progressively worsens, often affecting several organs including the central nervous system (CNS) inducing mental retardation, progressive neurodegeneration, and ...[more]