Browsing by Author "de97ff6e-7afd-495d-838b-ed21db284be2"

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    • “Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era 

      Pesaola, Favio; Guelbert, Guillermo; Venier, Ana Clara; Cismondi, Inés Adriana; Becerra, Adriana; Vazquez, Juan Carlos G; Fernandez, Elmer; De Paul, Ana Lucia; Guelbert, Norberto; Noher, Inés (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 ...