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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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Autori principali:	Daniel Rodrigues (Autore), Maria José de Castro (Autore), Pablo Crujeiras (Autore), Anna Duat-Rodriguez (Autore), Ana Victoria Marco (Autore), Mireia del Toro (Autore), María L. Couce (Autore), Cristóbal Colón (Autore)
Natura:	Libro
Pubblicazione:	Frontiers Media S.A., 2022-03-01T00:00:00Z.
Soggetti:	article
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