The LINCE Project: A Pathway for Diagnosing NCL2 Disease

INTRODUCTION: Neuronal 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 onl...

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Detalles Bibliográficos
Autores principales: Rodrigues, Daniel, de Castro, Maria José, Crujeiras, Pablo, Duat-Rodriguez, Anna, Marco, Ana Victoria, del Toro, Mireia, Couce, María L., Colón, Cristóbal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9002010/
https://www.ncbi.nlm.nih.gov/pubmed/35425725
http://dx.doi.org/10.3389/fped.2022.876688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9002010/
https://www.ncbi.nlm.nih.gov/pubmed/35425725
http://dx.doi.org/10.3389/fped.2022.876688

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