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Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA

5 Aug 2019

Abstract excerpt

Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in an autosomal recessive manner and is caused by a deficiency in the lysosomal enzyme sulfamidase, which is required for the degradation of heparan sulfate. The sulfamidase is produced by the N-sulphoglucosamine sulphohydrolase (SGSH)...

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PMID: 31385193
DOI: 10.1007/s11011-019-00465-6

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