Browsing FCM - Congresos 2013 by Subject "Neuronal ceroid lipofuscinosis"

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    • Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America 

      Sismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, Noelia; Alonso, Graciela; Pons, Patricia; Oller Ramírez, Ana María; Noher de Halac, Rita Inés; Dodelson de Kremer, Raquel (2013)
      The Neuronal Ceroid Lipofuscinoses (NCLs), inherited neurodegenerative disorders, are the second most frequent group lysosomal pathologies (LP) of childhood. They are characterized by the pathological accumulation of ...