Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C

• Main Authors: Francyne Kubaski (Author), Alberto Burlina (Author), Giulia Polo (Author), Danilo Pereira (Author), Zackary M. Herbst (Author), Camilo Silva (Author), Franciele B. Trapp (Author), Kristiane Michelin-Tirelli (Author), Franciele F. Lopes (Author), Maira G. Burin (Author), Ana Carolina Brusius-Facchin (Author), Alice B. O. Netto (Author), Larissa Faqueti (Author), Gabrielle D. Iop (Author), Edina Poletto (Author), Roberto Giugliani (Author)
• Formato: Livro
• Publicado em: MDPI AG, 2022-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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 sphingomyelinase deficiency patients. In this study, we report our experience using a t...