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Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

26 Aug 2016

Abstract excerpt

The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders have triggered the search for clinically relevant biomarkers and clinical markers associated with treatment efficacy in populations and individuals. However, biomedical measures do not tell the...

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PMID: 27561270
DOI: 10.1186/s13023-016-0503-2

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