Global ETD Search
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Showing 1 to 2 of 2 for “"MPS IIIA"”.
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Synaptic morphology, function, and regulation in a paediatric-onset neurodegenerative disorder
… most common sub-group is mucopolysaccharidosis (MPS) III (collectively 1 in 70,000). In Australia, MPS IIIA is the most common sub-type and the focus of this study. MPS IIIA is caused by an autosomal recessive mutation in the sulphamidase gene, leading to accumulation of heparan sulphate. …
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Evaluation of Seizure Threshold as an Early Behavioral Marker of Disease Progression in the Mouse Model of Mucopolysaccharidosis IIIA
<p>Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disease caused by a mutation in the gene that codes for the enzyme heparan sulfamidase. The decreased enzyme activity of heparan sulfamidase results in the accumulation of heparan sulfate (HS). HS accumulation in the brain causes …