Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

por Alves, Rita Maria, Uva, Paolo, Veiga, Marielza F., Oppo, Manuela, Zschaber, Fabiana C. R., Porcu, Giampiero, Porto, Henrique P., Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Atzeni, Rossano, Vieira, Lauro C. N., Pires, Marcos V. A., Cucca, Francesco, Toralles, Maria Betânia P., Angius, Andrea, Crisponi, Laura
Publicado 2019

Ketogenic therapy in childhood and adolescence: recommendations of the Brazilian experts group

por de Brito Sampaio, Letícia Pereira, Henriques-Souza, Adélia Maria de Miranda, Lin, Katia, Neri, Lenycia de Cassya Lopes, Inuzuka, Luciana Midori, Uchôa, Ludmila Inácio de Lima, Gregório, Marcela Marques de Oliveira, Guilhoto, Laura Maria, Montenegro, Maria Augusta, Lunardi, Mariana, Veiga, Marielza, de Lima, Patricia Azevedo, Braatz, Vera
Publicado 2023