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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 ...
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 ...
Análise quantitativa da deglutição orofaríngea em indivíduo gastrostomizado com Lipofuscinose Ceróide Neuronal: relato de caso
(CEFAC Saúde e Educação, 2013-12-01)
The presence of oropharyngeal dysphagia in the pediatric population with genetic diseases it is still poorly studied. The aim of this study was to analyze the oral total transit time and pharyngeal transit time, in an ...
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
(Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease., 2015)
Background: The Argentinean programwas initiatedmore than a decade ago as the first experience of systematic
translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and
underdiagnoses ...
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
(Elsevier Science, 2015-10)
Background: The Argentinean program was initiated more than a decade ago as the first experience of systematic translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and underdiagnoses ...