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Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0160-9
Abstract: Mucopolysaccharidosis (MPS) type IIIA is an inherited, neurodegenerative lysosomal storage disorder resulting from mutations in the SGSH gene. Consequently, N-sulphoglucosamine sulphohydrolase enzyme activity is reduced resulting in impaired catabolism of heparan sulphate. After an asymptomatic…
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Keywords:
age;
iiia mice;
mps iiia;
mice acquire ... See more keywords