Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maria Magdalena Vaccarezza"'
Autor:
Marisa Armeno, Silvana Calligaris, Daniela Gagiulo, Araceli Cresta, Maria Magdalena Vaccarezza, Cecilia Griselda Diez, Maria Julia Alberti, Rocio Viollaz, Francisco Vilavedra, Roberto H. Caraballo
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 138-149 (2024)
Abstract Objective There is growing evidence that ketogenic dietary therapy (KDT) can be safely and efficiently used in young children, but little evidence exists on its use in newborns. Developmental and epileptic encephalopathies starting in the ne
Externí odkaz:
https://doaj.org/article/c6e9a99b3dbe447582b7bc27a69573cd
Autor:
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Natacha Sabrina Bazan, 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 41, Iss , Pp 101081- (2024)
Externí odkaz:
https://doaj.org/article/0b0d211a4d684930842cef7d024b4a33
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:
Claudio Mazia, Constance M. Bowe, Maria Magdalena Vaccarezza, Ricardo A. Maselli, Marian Lara, Marcela Garcia-Erro, Juan Arredondo, Sidney M. Gospe, Michelle M. Mezei, Celia H. Chang
Publikováno v:
Human mutation, vol 36, iss 9
Choline acetyltransferase catalyzes the synthesis of acetylcholine at cholinergic nerves. Mutations in human CHAT cause a congenital myasthenic syndrome due to impaired synthesis of ACh; this severe variant of the disease is frequently associated wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c3dcf97ed9effe4d6786174ee3ca44
https://doi.org/10.1002/humu.22823
https://doi.org/10.1002/humu.22823
Publikováno v:
Binocular visionstrabismus quarterly. 19(4)
Pathologic alterations in neuromuscular transmission, known as Myasthenia Gravis (MG), comprise combinations (forms) of pre- and post-synaptic changes whose age at onset and clinical manifestations are dissimilar. Some forms have autoimmune features,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::821bfea86c0fae69e031fe118a0146d6
https://pubmed.ncbi.nlm.nih.gov/15530139
https://pubmed.ncbi.nlm.nih.gov/15530139