Article

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1

2026-01-18

Abstract excerpt

<h4>Background</h4> Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in NPC1 . Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogeneity characterized by a broad range of signs/symptom...

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Literature Corpus work: e003ca36-f40a-5f1e-8734-c3137080e9f4
DOI: 10.64898/2026.01.12.26343721

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