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…
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de por adulto (o preço varia de acordo com o tamanho do grupo)