Niemann-Pick disease type C
Por um escritor misterioso
Last updated 22 fevereiro 2025
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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…
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Proposed pathological cascade in Niemann-Pick disease type C (NPC
National Niemann-Pick Disease Foundation, Inc. - October is Global
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Niemann-Pick disease type C-presenting as persistent neonatal
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Adult onset Niemann-Pick disease type C presenting with psychosis
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IJMS, Free Full-Text
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The pathogenesis of Niemann–Pick type C disease: a role for
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Niemann- Pick Disease Type C (NPC) Market Report 2023-2033
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Fig 2. Subcortical Volumetric Reductions in Adult Niemann-Pick
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Niemann–Pick type C disease: cellular pathology and
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Parents of kids with Niemann Pick C advocate for adrabetadex
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