Navegação Ciências da Saúde por Assunto "Niemann-pick disease type C"
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Experience of the NPC Brazil network with a comprehensive program for the screening and diagnosis of Niemann-Pick disease type C
(2022) [Artigo de periódico]Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid ...