Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America

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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 ceroid-lipofuscin in the brain and other extra-cerebral tissues. The CLN2/TPP1 gene...

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Autores principales: 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
Formato: conferenceObject
Lenguaje:Inglés
Publicado: 2021
Materias:
Neuronal ceroid lipofuscinosis
Cln2
Phenotypes
Genotypes
Acceso en línea:http://hdl.handle.net/11086/21727
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba
id I10-R14111086-21727
record_format dspace
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-141
collection Repositorio Digital Universitario (UNC)
language Inglés
topic Neuronal ceroid lipofuscinosis
Cln2
Phenotypes
Genotypes
spellingShingle Neuronal ceroid lipofuscinosis
Cln2
Phenotypes
Genotypes
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
Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
topic_facet Neuronal ceroid lipofuscinosis
Cln2
Phenotypes
Genotypes
description 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 ceroid-lipofuscin in the brain and other extra-cerebral tissues. The CLN2/TPP1 gene codifies the soluble lysosomal enzyme Tripeptidyl-Peptidase1 (TPP1), and is mutated in the CLN2 form of NCLs, whose high phenotypic variability was not explained yet. Aims: To establish if phenotype/genotype correlations are present in classic late infantile (LI) and variant juvenile (J) phenotypes in South America.
format conferenceObject
author 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
author_facet 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
author_sort Sismondi, Inés Adriana
title Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
title_short Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
title_full Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
title_fullStr Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
title_full_unstemmed Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
title_sort neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in latin america
publishDate 2021
url http://hdl.handle.net/11086/21727
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