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 en Mol Genet Metab Rep (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 en Mol Genet Metab (2021)

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

por Lampe, Christina, Atherton, Andrea, Burton, Barbara K., Descartes, Maria, Giugliani, Roberto, Horovitz, Dafne D. G., Kyosen, Sandra O., Magalhães, Tatiana S. P. C., Martins, Ana Maria, Mendelsohn, Nancy J., Muenzer, Joseph, Smith, Laurie D.
Publicado 2014

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

por Gomes, Maria E.S., Kanazawa, Thatiane Y., Riba, Fernanda R., Pereira, Natálya G., Zuma, Maria C.C., Rabelo, Natana C., Sanseverino, Maria T., Horovitz, Dafne D.G., Llerena Jr., Juan C., Cavalcanti, Denise P., Gonzalez, Sayonara
Publicado en Mol Syndromol (2018)

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 en Genes (Basel) (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 en Mol Genet Metab Rep (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 en Mol Genet Metab Rep (2017)

Hematopoietic stem cell transplantation for mucopolysaccharidoses; past, present, and future

por Taylor, Madeleine, Khan, Shaukat, Stapleton, Molly, Wang, Jianmin, Chen, Jing, Wynn, Robert, Yabe, Hiromasa, Chinen, Yasutsugu, Boelens, Jaap Jan, Mason, Robert W., Kubaski, Francyne, Horovitz, Dafne D.G, Barth, Anneliese L., Serafini, Marta, Bernardo, Maria Ester, Kobayashi, Hironori, Orii, Kenji E., Suzuki, Yasuyuki, Orii, Tadao, Tomatsu, Shunji
Publicado en Biol Blood Marrow Transplant (2019)

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 en PLoS Genet (2017)