Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Diane Vergara"'
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
Autor:
Norberto Guelbert, Nora Atanacio, Inés Denzler, Emília Katiane Embiruçu, Nury Mancilla, Ricardo Naranjo, André Pessoa, Norma Spécola, Lina Tavera, Mónica Troncoso, Diane Vergara
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatr
Externí odkaz:
https://doaj.org/article/0154903b58e44bd79056b4765ea0ebc5
Autor:
José Miguel Cárdenas, Diane Vergara, Scarlet Witting, Fernanda Balut, Patricio Guerra, José Tomás Mesa, Sebastián Silva, Javiera Tello, Alvaro Retamales, Andrés Barrios, Fernando Pinto, Víctor Faundes, Mónica Troncoso
Publikováno v:
Molecular Syndromology. :1-12
Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the GALNS gene, encoding the lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and
Autor:
Anderson Rodrigues Brandão de Paiva, André Luiz Santos Pessoa, Paulo Ribeiro Nóbrega, Cristiane Araujo Martins Moreno, David S Lynch, Lucas Mitsuo Taniguti, João Paulo Kitajima, Fernando Freua, Bruno Della-Ripa, Paulina Cunha, Isabella Peixoto de Barcelos, Lúcia Inês Macedo-Souza, Carlos Augusto Takeuchi, Antônio Milton Silva Garcia, Flávia Nardes, Ramiro Fontão, Sérgio Antônio Antoniuk, Monica Troncoso, Norma Spécola, Consuelo Durand, Bianca de Aguiar Coelho Silva Madeiro, Maria Juliana Rodovalho Doriqui, Diane Vergara, Henry Houlden, Fernando Kok
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 94:405-408
Autor:
Norberto Guelbert, Oscar M Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora G Atanacio, Natacha S Bazan, Ellaine D.F Carvalho, María D. F Carvalho de Andrade, Inés M Denzler, Consuelo Durand, Erlane M Ribeiro, Juan C Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma J Hernández Rodriguez, Emilia K Embiruçu, Marcelo A Kauffman, Nury I Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina F Fischinger Moura de Souza, Victor A Muñoz, Ricardo A Naranjo Florez, André L Pessoa, Maria V Ruiz, Martha M Solano Villareal, Norma Spécola, Lina M Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Urgrina, María M Vaccarezza, Diane Vergara, María M Villanueva
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://explore.openaire.eu/search/publication?articleId=doi_________::51af08e74ac01947826084e752e49bf4
https://doi.org/10.21203/rs.3.rs-2159184/v1
https://doi.org/10.21203/rs.3.rs-2159184/v1
Publikováno v:
Epileptic Disorders. 23:951-953
Autor:
Carmen Mendes, André Luiz Santos Pessoa, Luis A Lizcano, Charles Marques Lourenço, Nury Mancilla, Francisca Mallorens, Mónica Troncoso, Carolina Rivera-Nieto, Nora Atanacio, Norberto Guelbert, N. Specola, Emily Gardner, Diane Vergara, Sara E. Mole, Lina Tavera, Carolina Fischinger Moura de Souza
Publikováno v:
Journal of Paediatrics and Child Health
Aim Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological
Autor:
Lina Tavera, Norma Spécola, Nury Mancilla, Mónica Troncoso, Inés Denzler, Emília Katiane Embiruçu, Norberto Guelbert, Ricardo Naranjo, André Pessoa, Diane Vergara, Nora Atanacio
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200012, Published: 04 DEC 2020
Journal of Inborn Errors of Metabolism and Screening v.8 2020
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Journal of Inborn Errors of Metabolism and Screening v.8 2020
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatric neurol
Publikováno v:
Piel. 29:414-416
Publikováno v:
Piel. 28:17-19