Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
Fil: Sismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina.
| Main Authors: | , , , , , , , , |
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| Format: | conferenceObject |
| Language: | eng |
| Published: |
2021
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| Online Access: | http://hdl.handle.net/11086/21727 |
| _version_ | 1801211174844366848 |
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| 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 |
| collection | Repositorio Digital Universitario |
| description | Fil: Sismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina. |
| format | conferenceObject |
| id | rdu-unc.21727 |
| institution | Universidad Nacional de Cordoba |
| language | eng |
| publishDate | 2021 |
| record_format | dspace |
| spelling | rdu-unc.217272023-05-31T12:18:51Z Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America 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 Cln2 Phenotypes Genotypes Fil: Sismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina. Fil: Guelbert, Norberto. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Kohan, Romina. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Carabelos, Noelia. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Alonso, Graciela. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Pons, Patricia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Microscopia Electrónica; Argentina Fil: Oller Ramírez, Ana María. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Noher de Halac, Rita Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Estudios en Comunicación, Expresión y Tecnologías; Argentina. Fil: Dodelson de Kremer, Raquel. Centro de Estudio de las Metabolopatías Congénitas; Argentina. 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. Fil: Sismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina. Fil: Guelbert, Norberto. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Kohan, Romina. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Carabelos, Noelia. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Alonso, Graciela. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Pons, Patricia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Microscopia Electrónica; Argentina Fil: Oller Ramírez, Ana María. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Noher de Halac, Rita Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Estudios en Comunicación, Expresión y Tecnologías; Argentina. Fil: Dodelson de Kremer, Raquel. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Genética Humana 2021-11-23T16:42:57Z 2021-11-23T16:42:57Z 2013 conferenceObject http://hdl.handle.net/11086/21727 eng Attribution-NonCommercial-ShareAlike 4.0 International https://creativecommons.org/licenses/by-nc-sa/4.0/ Impreso |
| 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 |
| title | 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_short | 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 |
| topic | Neuronal ceroid lipofuscinosis Cln2 Phenotypes Genotypes |
| url | http://hdl.handle.net/11086/21727 |
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