Casaniemann pick disease

Niemann-Pick disease type C

Por um escritor misterioso
Last updated 22 dezembro 2024
Niemann-Pick disease type C
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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