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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 ...
Bone Diseases as the only clinical manifestation of gaucher disease type
(Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal, 2013)
Gaucher disease (GD) is a lysosomal disease, due to the deficiency of Iˆ2-glucosidase, characterized by invol vement of hematopoietic organs such as the spleen, liver, bone marrow, lung, and bone. Bone is the second most ...
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 ...
Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
(2013)
Urea cycle disorders (UCD) encompass several enzyme deficiencies with a wide clinical spectrum from asymptomatic to severe, mostly with cerebral damage.
Objective: to communicate the autochthonous experience in the ...