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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التفاصيل البيبلوغرافية

الحاوية / القاعدة:	International Journal of Neonatal Screening
المؤلفون الرئيسيون:	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
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	MDPI AG 2022-06-01
الموضوعات:	Niemann-Pick disease type C lysosphingomyelin-509 tandem mass spectrometry biomarker lysosomal storage disorder Brazil
الوصول للمادة أونلاين:	https://www.mdpi.com/2409-515X/8/3/39