The LINCE Project: A Pathway for Diagnosing NCL2 Disease

The LINCE Project: A Pathway for Diagnosing NCL2 Disease

IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders. Neuronal Ceroid lipofuscinosis type 2 disease (NCL2), caused by the deficient lysosomal enzyme tripeptidyl peptidase 1 (TPP1), is the only...

Full description

Bibliographic Details
Main Authors: Daniel Rodrigues, Maria José de Castro, Pablo Crujeiras, Anna Duat-Rodriguez, Ana Victoria Marco, Mireia del Toro, María L. Couce, Cristóbal Colón
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Pediatrics
Subjects:
NCL2 disease
dried blood spot
early diagnosis
enzymatic activity
screening tripeptidyl peptidase 1
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.876688/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.876688/full

Similar Items