Niemann-Pick disease type C
Por um escritor misterioso
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…
Understanding the phenotypic variability in Niemann-Pick disease
Niemann-Pick Disease Type C
Mitochondrial G8292A and C8794T mutations in patients with Niemann
Parents of twins with Niemann-Pick find a treatment
Niemann–Pick type C disease: cellular pathology and
Fig 2. Subcortical Volumetric Reductions in Adult Niemann-Pick
Niemann-Pick disease type C Alzheimer Society of Canada
Niemann–Pick Disease Type C
Niemann-Pick-C desease - CERMO-FC
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