Browsing Artículos científicos - Año 2021 by Subject "CLN8"
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“Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
(2021)Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are ...