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

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

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...

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Bibliographic Details
Main Authors: Francyne Kubaski, Alberto Burlina, Giulia Polo, Danilo Pereira, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Larissa Faqueti, Gabrielle D. Iop, Edina Poletto, Roberto Giugliani
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:International Journal of Neonatal Screening
Subjects:
Niemann-Pick disease type C
lysosphingomyelin-509
tandem mass spectrometry
biomarker
lysosomal storage disorder
Brazil
Online Access:https://www.mdpi.com/2409-515X/8/3/39

Internet

https://www.mdpi.com/2409-515X/8/3/39

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