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

dc.contributor.authorSismondi, Inés Adriana
dc.contributor.authorGuelbert, Norberto
dc.contributor.authorKohan, Romina
dc.contributor.authorCarabelos, Noelia
dc.contributor.authorAlonso, Graciela
dc.contributor.authorPons, Patricia
dc.contributor.authorOller Ramírez, Ana María
dc.contributor.authorNoher de Halac, Rita Inés
dc.contributor.authorDodelson de Kremer, Raquel
dc.date.accessioned2021-11-23T16:42:57Z
dc.date.available2021-11-23T16:42:57Z
dc.date.issued2013
dc.identifier.urihttp://hdl.handle.net/11086/21727
dc.description.abstractThe 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.es
dc.format.mediumImpreso
dc.language.isoenges
dc.rightsAttribution-NonCommercial-ShareAlike 4.0 International*
dc.rights.urihttps://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectNeuronal ceroid lipofuscinosises
dc.subjectCln2es
dc.subjectPhenotypeses
dc.subjectGenotypeses
dc.titleNeuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin Americaes
dc.typeconferenceObjectes
dc.description.filFil: Sismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina.es
dc.description.filFil: Guelbert, Norberto. Centro de Estudio de las Metabolopatías Congénitas; Argentina.es
dc.description.filFil: Kohan, Romina. Centro de Estudio de las Metabolopatías Congénitas; Argentina.es
dc.description.filFil: Carabelos, Noelia. Centro de Estudio de las Metabolopatías Congénitas; Argentina.es
dc.description.filFil: Alonso, Graciela. Centro de Estudio de las Metabolopatías Congénitas; Argentina.es
dc.description.filFil: Pons, Patricia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Microscopia Electrónica; Argentinaes
dc.description.filFil: Oller Ramírez, Ana María. Centro de Estudio de las Metabolopatías Congénitas; Argentina.es
dc.description.filFil: Noher de Halac, Rita Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Estudios en Comunicación, Expresión y Tecnologías; Argentina.es
dc.description.filFil: Dodelson de Kremer, Raquel. Centro de Estudio de las Metabolopatías Congénitas; Argentina.es
dc.description.fieldGenética Humana
dc.conference.cityCaixas do Sul
dc.conference.countryBrasil
dc.conference.editorialEscuela Latinoamericana de Genética Humana y Médica- ELAG
dc.conference.event9º Curso de la Escuela Latinoamericana de Genética Humana
dc.conference.eventdate2013-5
dc.conference.institutionEscuela Latinoamericana de Genética Humana
dc.conference.journalLibro de Actas: 9º Curso de la Escuela Latinoamericana de Genética Humana
dc.conference.publicationLibro
dc.conference.workResumen
dc.conference.typeOtro


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