Article

Clinical, genotypic, and neuropsychological profile in a series of cases of patients with Niemann-Pick type C disease

2024-05-07

Abstract excerpt

<title>Abstract</title> <p>Background Niemann-Pick type C (NPC) disease is a rare neurodegenerative disorder with a wide spectrum of clinical manifestations and genetic variability. This cross-sectional study aimed to comprehensively describe the neuropsychological impact of NPC and investigate its correlation with specific genotypes. Results Eight patients from six unrelated families were included in this stud...

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Literature Corpus work: e16c22d6-17e3-5841-8ec5-a7d0012944cd
DOI: 10.21203/rs.3.rs-4177612/v1

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