Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015 von Schuler-Faccini, Lavinia, Ribeiro, Erlane M., Feitosa, Ian M.L., Horovitz, Dafne D.G., Cavalcanti, Denise P., Pessoa, André, Doriqui, Maria Juliana R., Neri, Joao Ivanildo, de Pina Neto, Joao Monteiro, Wanderley, Hector Y.C., Cernach, Mirlene, El-Husny, Antonette S., Pone, Marcos V.S., Serao, Cassio L.C., Sanseverino, Maria Teresa V.

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Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future von 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

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

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Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America von Solano, Martha L., 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.

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Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children von Horovitz, Dafne D.G., Acosta, Angelina Xavier, de Rosso Giuliani, Liane, Ribeiro, Erlane Marques

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Perthes-Like Disease Masquerading Non-Classical MPS von Souza, Carolina F.M., Siqueira, Ana Cecília, Antunes, Natália S., Horovitz, Dafne D.G., Politei, Juan, Lourenço, Charles M., Doriqui, Maria Juliana Rodovalho, Souza, Débora Lima, Galera, Marcial Francis, Abrahão, Leonardo Cury, Matos, Marcos Almeida, Mendes, Pedro Henrique Barros, Magalhães, Tatiana S.P.C

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The phenotypic spectrum of congenital Zika syndrome von del Campo, Miguel, Feitosa, Ian M. L., Ribeiro, Erlane M., Horovitz, Dafne D. G., Pessoa, André L. S., França, Giovanny V. A., García‐Alix, Alfredo, Doriqui, Maria J. R., Wanderley, Hector Y. C., Sanseverino, Maria V. T., Neri, João I. C. F., Pina‐Neto, João M., Santos, Emerson S., Verçosa, Islane, Cernach, Mirlene C. S. P., Medeiros, Paula F. V., Kerbage, Saile C., Silva, André A., van der Linden, Vanessa, Martelli, Celina M. T., Cordeiro, Marli T., Dhalia, Rafael, Vianna, Fernanda S. L., Victora, Cesar G., Cavalcanti, Denise P., Schuler‐Faccini, Lavinia

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Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter von Horovitz, Dafne D.G., Barth, Anneliese L., Alves, Welton C., Llerena, Juan C.

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Practical management of behavioral problems in mucopolysaccharidoses disorders von Escolar, Maria L., Jones, Simon A., Shapiro, Elsa G., Horovitz, Dafne D.G., Lampe, Christina, Amartino, Hernán

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Challenges and hurdles to cope with Pompe disease in the Brazilian Unified Health System (SUS) frame: Lessons learned from a series of 19 patients from a national Rare Disease Refe... von Llerena, Juan, Sixel, Bruna, Thomazinho, Paula, Salviano, Luanda, Scalco, Fernanda, Aragão, Amanda, Barth, Anneliese, Horovitz, Dafne D.G.

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Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families von Zin, Olivia A, Neves, Luiza M, Cunha, Daniela P, Motta, Fabiana L, Agonigi, Bruna N S, Horovitz, Dafne D G, Almeida, Jr, 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

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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation von Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne D G, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y

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Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 von Itzkovitz, Brandon, Jiralerspong, Sarn, Nimmo, Graeme, Loscalzo, Melissa, Horovitz, Dafne D. G., Snowden, Ann, Moser, Ann, Steinberg, Steve, Braverman, Nancy

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Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II: A Literature Review and Critical Analysis von Barth, Anneliese L., Horovitz, Dafne D. G.

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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies von Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Souza, Carolina Fischinger Moura, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A.

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

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Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study von Horovitz, Dafne D.G., Leão, Emília K.E.A., Ribeiro, Erlane M., Martins, Ana M., Barth, Anneliese L., Neri, João I.C.F., Kerstenetzky, Marcelo, Siqueira, Ana C.M., Ribeiro, Bethania F.R., Kim, Chong A., Santos, Francisca C., Franco, José F.S., Lichtvan, Leniza C.L., Giuliani, Liane R., Rodrigues, Maria Do C.S., Bonatti, Renata C.F., Teixeira, Thaís B., Gonçalves, Alexandra, Lourenço, Charles M., Pereira, Ane S.S., Acosta, Angelina X.

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The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis von Neves, Luiza M., Pinto, Márcia, Zin, Olivia A., Cunha, Daniela P., Agonigi, Bruna N. S., Motta, Fabiana L., Gomes, Leonardo H. F., Horovitz, Dafne D. G., Almeida, Daltro C., Malacarne, Jocieli, Guida, Leticia, Braga, Andressa, Carvalho, Adriana Bastos, Pereira, Eduardo, Rodrigues, Ana Paula S., Sallum, Juliana M. F., Zin, Andrea A., Vasconcelos, Zilton F. M.

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Bone/joint abnormalities in children/adolescents: A screening protocol for mucopolysaccharidosis von Horovitz, Dafne D.G., Barth, Anneliese L., Barros Mendes, Pedro H., Gonzaga, Mariana Q.G., Chisté, Yuri L., Medeiros, Rommel B., Oliveira, Maria L., Scalco, Fernanda B.

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Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia von 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

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