Browsing Facultad de Ciencias Médicas by Author "Oller Ramírez, Ana María"

Now showing items 1-3 of 3

    • A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America 

      Pesaola, Favio; Sismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, Noelia; Alonso, Graciela; Pons, Patricia; Oller Ramírez, Ana María; Noher de Halac, Rita Inés (2013)
      Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with storage oflipofuscin-like lipopigments in cerebral neurons and peripheraltissues. Mutations in CLN8 gene causing epilepsy ...

    • 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 ...

    • Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina 

      Mugnaini, Julia; Dodelson de Kremer, Raquel; Oller Ramírez, Ana María; Azar, Nydia Beatriz; Dardis, Andrea; Becerra, Adriana; Zampieri, S.; Guelbert, Norberto (Sociedad Americana de errores innatos del metabolismo y pesquisa neonatal, 2013)
      Sandhoff Disease (SD) is a lysosomal storage disorder caused by mutations in the HEXB gene. A high incidence of SD has been described in an Argentine region called ‘‘Valle de Traslasierra.’’ Mutations c.445þ1G>A and ...