Article

Development and Longitudinal Neurocognitive Functioning in Mucopolysaccharidosis type IIIC: A Case Study

2024-10-15

Abstract excerpt

<title>Abstract</title> <p>This case study presents a comprehensive analysis of the neurocognitive, medical, and developmental functioning of a 9-year-old girl diagnosed with mucopolysaccharidosis type IIIC (MPS IIIC). Genetic testing revealed a homozygous pathogenic variant of the HGSNAT gene (c.1872C>A), typically associated with severe neurodegeneration. However, her clinical presentation has been milder compa...

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Literature Corpus work: f7750a45-d283-5f2e-80ad-ce848c055cee
DOI: 10.21203/rs.3.rs-5240993/v1

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