Article

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study 

2020-10-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Niemann–Pick disease type C (NPC) is a rare, progressive, neurodegenerative disease associated with neurovisceral manifestations resulting from lysosomal dysfunction and aberrant lipid accumulation. A multicentre, prospective observational study (ClinicalTrials.gov ID:NCT02435030) of individuals with genetically confirmed NPC1 or NPC2 receiving routine clinical ca...

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Literature Corpus work: 329c5b32-36ef-52cd-b12f-81b5a24ccdb3
DOI: 10.21203/rs.3.rs-35139/v2

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