The LINCE Project: A Pathway for Diagnosing NCL2 Disease

• Main Authors: Daniel Rodrigues (Author), Maria José de Castro (Author), Pablo Crujeiras (Author), Anna Duat-Rodriguez (Author), Ana Victoria Marco (Author), Mireia del Toro (Author), María L. Couce (Author), Cristóbal Colón (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...