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...

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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

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