Articles with "severe neurometabolic" as a keyword



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Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation

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Published in 2023 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2023.1078634

Abstract: Niemann Pick disease type C (NPC) is an autosomal recessive neurodegenerative lysosomal disorder characterized by an accumulation of lipids in different organs. Clinical manifestations can start at any age and include hepatosplenomegaly, intellectual impairment, and… read more here.

Keywords: npc1 zebrafish; phenotype npc1; model; mutation ... See more keywords