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A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
(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 ...
A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America
(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 ...
Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina
(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 ...
Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
(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 ...