The new frame for Mucopolysaccharidoses.
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ABSTRACT:
SUBMITTER: Parini R
PROVIDER: S-EPMC6238248 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
The new frame for Mucopolysaccharidoses.
Parini Rossella R Biondi Andrea A
Italian journal of pediatrics 20181116 Suppl 2
Mucopolysaccharidoses (MPS) are genetic, progressive, lysosomal storage disorders affecting virtually all organs and systems. The first MPS were clinically identified about 100 years ago. Nowadays, the enzyme defects and related genes are known for all 11 different enzyme defects. Treatments are available for many MPS but these have only partial efficacy, especially when started late. The problems to solve are: 1) the need for an earlier diagnosis (neonatal screening? improving the awareness of ...[more]
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