Article

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

2026-02-23

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in <italic>NPC1</italic> . Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogen...

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Literature Corpus work: c69f5eee-cf26-56b5-b510-d55bce9d4179
DOI: 10.21203/rs.3.rs-8833559/v1

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