Niemann–Pick type C disease: cellular pathology and
Por um escritor misterioso
Last updated 22 fevereiro 2025
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Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease - ScienceDirect
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Niemann-Pick Disease Concise Medical Knowledge
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Presentations of Niemann-Pick Type C disease
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NPC1-dependent alterations in KV2.1–CaV1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease
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PDF) The pathogenesis of Niemann-Pick type C disease: A role for autophagy?
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IJMS, Free Full-Text
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Lipid trafficking defects in Niemann-Pick type C disease
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University College London begins preclinical studies to develop a treatment for Niemann Pick C disease with support from the Columbus Foundation – Columbus Children's Foundation
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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
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Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
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Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
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Biophysical impact of sphingosine and other abnormal lipid accumulation in Niemann-Pick disease type C cell models - ScienceDirect
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From genes to hope
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