Výsledky vyhledávání - "Guillermo Guelbert"

Akademický článek

Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa

Autor: Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101060- (2024)

Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional

Externí odkaz: https://doaj.org/article/d1f6513168dd43cd873e78c97646f8bf

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Akademický článek

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

Autor: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

Publikováno v: Frontiers in Neurology, Vol 13 (2022)

Neuronal ceroid lipofuscinoses (NCLs) comprise 13 hereditary neurodegenerative pathologies of very low frequency that affect individuals of all ages around the world. All NCLs share a set of symptoms that are similar to other diseases. The exhaustive

Externí odkaz: https://doaj.org/article/10be526a07204d988321d4c2cf54b85f

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Akademický článek

Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina

Autor: Guillermo Guelbert, Norberto Guelbert

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)

Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity. Enzyme replacement therapy

Externí odkaz: https://doaj.org/article/46ef2ff693e44ea6a21f41fb5fe4094d

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Akademický článek

'Atypical' Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Autor: Favio Pesaola, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

ABSTRACT Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized wit

Externí odkaz: https://doaj.org/article/98139ce7c9a94aa784ae9d56f4a1dc8c

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Cerliponase alfa in the treatment of patients with classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::51af08e74ac01947826084e752e49bf4
https://doi.org/10.21203/rs.3.rs-2159184/v1

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'Atypical' Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Autor: Guillermo Guelbert, Adriana Becerra, Favio Pesaola, Ana Clara Venier, Ana Lucía De Paul, Inés Adriana Cismondi, Ines Noher, Juan Carlos G. Vazquez, Norberto Guelbert, Elmer Andrés Fernández

Publikováno v: Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210009, Published: 05 MAY 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized with disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45888f3d773e07c06b990cb4c0df23a
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100308

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CLN2 disease (neuronal ceroid lipofuscinosis type 2): Experience in the real world with cerliponase alfa intracerebroventricular enzyme replacement therapy in a public hospital in Cordoba, Argentina

Autor: Victor Munoz, Guillermo Guelbert, Francisco Pueyrredon, Guillermo Seratti, Roberto Caraballo, Norberto Guelbert, Raul Jalil, Tatiana Rodrigo, Daniel Velazquez

Publikováno v: Molecular Genetics and Metabolism. 123:S128

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1efc7cefb0cb611f6174c8bfcdd184be
https://doi.org/10.1016/j.ymgme.2017.12.349

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