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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Frontiers Media S.A.,
2022-03-01T00:00:00Z.
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