Niemann-Pick disease type C
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Descrição
Niemann-Pick disease type C is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by impaired cellular trafficking of cholesterol and sphingolipids and caused by mutations in either the NPC1 or NPC2 gene. The age of presentation is highly variable, ranging from the…
Niemann-Pick Disease Type C
Niemann–Pick disease type C1 (NPC1) is associated with early-onset
Critical role for glycosphingolipids in Niemann-Pick disease type
The pathogenesis of Niemann–Pick type C disease: a role for
Lipid trafficking defects in Niemann-Pick type C disease
Fig 2. Subcortical Volumetric Reductions in Adult Niemann-Pick
A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C
Mitochondrial dysfunction in fibroblasts derived from patients
Progression of Niemann–Pick type C disease in mice and humans
Understanding the phenotypic variability in Niemann-Pick disease
Mitochondrial GSH replenishment as a potential therapeutic
Infantile form of Niemann-Pick disease type C with demyelination
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por adulto (o preço varia de acordo com o tamanho do grupo)