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Article

Early defects in lysosomal storage diseases disrupt excitatory synaptic transmission

2020-07-06

Abstract excerpt

At least two thirds of patients affected with lysosomal storage disorders (LSD) exhibit neurological symptoms. For mucopolysaccharidosis type IIIC (MPS IIIC, Sanfilippo disease type C) caused by mutations in the HGSNAT gene and lysosomal storage of heparan sulfate the major burden is progressive and severe neuropsychiatric problems, mental retardation, and dementia though to be mainly mediated by neurodegeneratio...

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Literature Corpus work
54409911-49db-59f9-a702-d5d83ed80201
DOI
10.1101/2020.07.06.186809
Open publication

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Early defects in lysosomal storage diseases disrupt excitatory synaptic transmissionDOI 10.1101/2020.07.06.186809
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