Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter

por Horovitz, Dafne D.G., Barth, Anneliese L., Alves, Welton C., Llerena, Juan C.
Publicado 2023

Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children()

por Horovitz, Dafne D.G., Acosta, Angelina Xavier, de Rosso Giuliani, Liane, Ribeiro, Erlane Marques
Publicado 2015

COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective

por Schwartz, Ida V.D., Randon, Dévora N., Ferraro, Lethicia C., de Souza, Carolina F.M., Horovitz, Dafne D.G., de Sá, Natan M., Brunoni, Decio
Publicado 2021

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia

por Zin, Olivia A., Neves, Luiza M., Motta, Fabiana L., Horovitz, Dafne D. G., Guida, Leticia, Gomes, Leonardo H. F., Cunha, Daniela P., Rodrigues, Ana Paula S., Zin, Andrea A., Sallum, Juliana M. F., Vasconcelos, Zilton F. M.
Publicado 2021

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

por Solano, MarthaL., Fainboim, Alejandro, Politei, Juan, Porras-Hurtado, Gloria L., Martins, Ana Maria, Souza, Carolina F. Moura, Koch, Felipe Mendez, Amartino, Hernan, Satizábal, Jose Maria, Horovitz, Dafne D.G., Medeiros, Paula F.V., Honjo, Rachel S., Lourenço, Charles M.
Publicado 2020

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

por Barth, Anneliese L., de Magalhães, Tatiana S.P.C., Reis, Ana Beatriz R., de Oliveira, Maria Lucia, Scalco, Fernanda B., Cavalcanti, Nicolette C., Silva, Daniel S. e, Torres, Danielle A., Costa, Alessandra A.P., Bonfim, Carmem, Giugliani, Roberto, Llerena, Juan C., Horovitz, Dafne D.G.
Publicado 2017

Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

por Zin, Olivia A., Neves, Luiza M., Cunha, Daniela P., Motta, Fabiana L., Agonigi, Bruna N. S., Horovitz, Dafne D. G., Almeida, Daltro C., Malacarne, Jocieli, Rodrigues, Ana Paula S., Carvalho, Adriana B., Rivello, Cinthia A., Espariz, Rita, Zin, Andrea A., Sallum, Juliana M. F., Vasconcelos, Zilton F. M.
Publicado 2023

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

por Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, Lindsday A., Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., da Rocha, Katia M., Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., De Vries, Bert B. A., Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, van Bon, Bregje W.
Publicado 2017