Critical role for glycosphingolipids in Niemann-Pick disease type
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The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes - ScienceDirect
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Finding a Breakthrough for Tucker and the World - The Children's Inn at NIH
PDF) Recommendations on the diagnosis and management of Niemann-Pick disease type C
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mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts
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The role of lipids in autophagy and its implication in neurodegeneration
Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses
Natural history and management of liver dysfunction in lysosomal storage disorders
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
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