Publication: Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
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13 p.
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Abstract
Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 a...
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Las Heras, M., Szenfeld, B., Ballout, R.A. et al. Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine. npj Genom. Med. 8, 21 (2023). https://doi.org/10.1038/s41525-023-00365-w
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