Browsing FCM - Congresos 2013 by Author "06f9f9b8-f6e3-4382-88a8-e47cd8e7d68f"
Now showing items 1-1 of 1
-
A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America
Pesaola, Favio; Cismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, María Noelia; Alonso, Graciela; Pons, Patricia; Noher de Halac, Rita Inés; Oller Ramírez, Ana María (2013)Introduction: Neuronal ceroid lipofuscinosis (NCL), inherited neurodegenerative diseases of all ages, presents with storage of lipofuscin-like lipopigments in cerebral neurons and peripheral tissues. Mutations in CLN8 ...