Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Consuelo, Durand"'
Autor:
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS)
Externí odkaz:
https://doaj.org/article/035cbead2c0241dba2d01dd40974329c
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:
Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101157- (2024)
Externí odkaz:
https://doaj.org/article/aa2da1fa7f1f46a4a2ce1c92fa0270f8
Autor:
Joaquín Frabasil, Consuelo Durand, Silvia Sokn, Daniela Gaggioli, Patricia Carozza, Ricardo Carabajal, Juan Politei, Andrea B. Schenone
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 45-52 (2019)
Abstract Background Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by enzyme Alpha‐Galactosidase A (α‐Gal‐A) deficiency, due mutations in GLA gene. Progressive glycolipid accumulation leads to damage in kidney and other
Externí odkaz:
https://doaj.org/article/85e7954499a04297a85d4c31d999ebcb
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e7261630c6d81186feb3665a157a2f0
https://doi.org/10.1136/jnnp-2022-330135
https://doi.org/10.1136/jnnp-2022-330135
Publikováno v:
Revista de Nefrología, Diálisis y Trasplante, Vol 35, Iss 4, Pp 220-228 (2017)
Fabry disease is a rare X-linked inherited disorder due to deficient or absent lysosomal α-galactosidase A activity, resulting in an excessive glycosphingolipid deposit, mainly globotriaosylceramide (gl3) and mortality due renal, cardiac and neurolo
Externí odkaz:
https://doaj.org/article/3c3af47197044f45be5cf55e03881587
Publikováno v:
Revista Paraguaya de Reumatología, Vol 2, Iss 2, Pp 87-91 (2017)
La presencia de dolor distal en las extremidades y debilidad muscular lleva en muchos pacientes a la búsqueda de enfermedades reumatológicas sin contemplar la posibilidad de otras entidades no inflamatorias. Un acercamiento al diagnóstico del dolo
Externí odkaz:
https://doaj.org/article/cccf9153008342c58b259b1e36bd6011
Autor:
Juan Manuel Politei, Hugo Abensur, Norberto Antongiovanni, Diego Bar, Luis Barros, Joseph Brooks, Gustavo Cabrera, Kenneth Carazo, Alberto Ciceran, Wilfredo Cortés, Sonia De Maio, Juan Díaz Salvia, Karen Dublán García, Consuelo Durand, Víctor Espín, Alejandro Fainboim, Adrián Fernández, Sergio Figueroa, Macarena Franco, Griselda Gómez, Michel Gurdet, Ricardo Heguilén, Javier Ibarra, Sebastián Jaurretche, Georgina Loyola Rodríguez, Paula Luna, Ana Martins, Fernando Molt, Sandra Moraga Nuñez, Giselle Myer, Juana Navarrete, Juan Pérez García, Luis Pineda Galindo, Carla Postigo, Juan Prieto, Diego Ripeau, Gabriela Salas Pérez, Azucena Sánchez, Hargoon Santami, Andrea Schenone, Graciela Serebrinsky, Fátima Sierra, José Sobral, Lura Titievsky, Hernán Trimarchi, Guillermo Valadez, Carmen Varas Mundaca, Víctor Velazcor, Valeria Veloso, Jacobo Villalobos Jacobo
Publikováno v:
Revista de Nefrología, Diálisis y Trasplante, Vol 37, Iss 1, Pp 21-28 (2017)
Introduction: Fabry disease is a rare inherited X-linked disorder resulting from the absence or deficient activity of the α-galactosidase A enzyme. Objetive: To provide the first guideline on the best time to start enzyme replacement therapy to trea
Externí odkaz:
https://doaj.org/article/64cb5f483e6146c5828da9ad6804f53e
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
Autor:
Hernán, Eiroa, Consuelo, Durand, Marina, Szlago, Marcela, Pereyra, Mariana, Nuñez, Norberto, Guelbert, Gabriela, Pacheco, Soledad, Kleppe
Publikováno v:
Archivos argentinos de pediatria.
Hyperammonemia is a medical emergency. There are no publications regarding the availability of resources, supplies, and knowledge necessary for the initial management of hyperammonemia by pediatricians in Argentina; however, according to the authors'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::706621a491ebe482318e5bf5cd90d9b1
https://pubmed.ncbi.nlm.nih.gov/36287611
https://pubmed.ncbi.nlm.nih.gov/36287611