A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD von Chaves, Tiago Fernando, Ocampos, Maristela, Barbato, Ingrid Tremel, de Camargo Pinto, Louise Lapagesse, de Luca, Gisele Rozone, Barbato Filho, Jorge Humberto, Bernardi, Priscila, Costa Netto Muniz, Yara, Francesca Maris, Angelica

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Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil von Chaves, Tiago Fernando, Baretto, Nathacha, Oliveira, Luan Freitas de, Ocampos, Maristela, Barbato, Ingrid Tremel, Anselmi, Mayara, De Luca, Gisele Rozone, Barbato Filho, Jorge Humberto, Pinto, Louise Lapagesse de Camargo, Bernardi, Pricila, Maris, Angelica Francesca

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Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions von Aranda, Carolina Sanchez, Aun, Marcelo Vivolo, Souza, Carolina Fischinger Moura de, Pinto, Louise Lapagesse de Camargo, Porras-Hurtado, Gloria Liliana, Salgado, Omar Francisco Sierra, Arantes, Rodrigo Rezende, Martins, Ana Maria, Solé, Dirceu

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Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations von de Camargo Pinto, Louise Lapagesse, Maluf, Sharbel Weidner, Leistner-Segal, Sandra, Zimmer da Silva, Camila, Brusius-Facchin, Ana, Burin, Maira Graef, Brustolin, Silvia, Llerena, Juan, Moraes, Lucia, Vedolin, Leonardo, Schuch, Alice, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein

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Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study von dos Santos, Thamires Rosa, Carlucci, Nicoly Stefani Sevalho, de Avó, Lucimar Retto da Silva, Barbato, Ingrid Tremel, Pinto, Louise Lapagesse de Camargo, Pilotto, Rui Fernando, Germano, Carla Maria Ramos, Melo, Débora Gusmão

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Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients von Basgalupp, Suelen P., Siebert, Marina, Vairo, Filippo Pinto e, Chami, Anisse Marques, Pinto, Louise Lapagesse de Camargo, Carvalho, Gerson da S., Schwartz, Ida Vanessa D.

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Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil von Chaves, Tiago Fernando, Oliveira, Luan Freitas, Ocampos, Maristela, Barbato, Ingrid Tremel, de Luca, Gisele Rozone, Barbato Filho, Jorge Humbeto, de Camargo Pinto, Louise Lapagesse, Bernardi, Pricila, Maris, Angelica Francesca

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Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion von Graziadio, Carla, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Pinto, Louise Lapagesse de Camargo, Barea, Liselotte Menke, Paskulin, Giorgio Adriano

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Orthopedic manifestations in patients with muco­polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey von Link, Bianca, Louise Lapagesse de Camargo Pinto, Giugliani, Roberto, Wraith, James Edmond, Guffon, Nathalie, Eich, Elke, Beck, Michael

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Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network von Dornelles, Alícia Dorneles, de Camargo Pinto, Louise Lapagesse, de Paula, Ana Carolina, Steiner, Carlos Eduardo, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne Dain Gandelman, Ribeiro, Erlane Marques, Valadares, Eugênia Ribeiro, Goulart, Isabela, Neves de Souza, Isabel C, da Costa Neri, João Ivanildo, Santana-da-Silva, Luiz Carlos, Silva, Luiz Roberto, Ribeiro, Márcia, de Oliveira Sobrinho, Ruy Pires, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein

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Prenatal diagnosis of Pompe disease von Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kessler, Rejane Gus, Tirelli, Kristiane M., Pasetto, Fernanda B., Sebastião, Fernanda M., Kubaski, Francyne, de Camargo Pinto, Louise Lapagesse, Giugliani, Roberto

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PHENYLKETONURIA'S GENETIC LANDSCAPE IN BRAZIL von Tresbach, Rafael Hencke, Ludwig, Fernanda Sperb, Vieira, Marta Wey, Costa, Roseli Divino, Freitas, Pedro Eduardo Bonfim, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, Galera, Marcial Francis, Cunha, Keyla Christy Christine Mendes Sampaio, de Souza, Cézar Antônio Abreu, Januário, José Nélio, Aguiar, Marcos José Burle, Schwartz, Ida Vanessa Doederlein

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Combined chemotherapy and teratogenicity von Paskulin, Giorgio Adriano, Gazzola Zen, Paulo Ricardo, de Camargo Pinto, Louise Lapagesse, Rosa, Rafael, Graziadio, Carla

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General overview of urea cycle disorders (UCDs) in Brazil von Schwartz, Ida Vanessa Doederlein, dos Santos, Mariana Lopes, Fink, Isabela Alicia, de Bitencourt, Fernanda Fernanda Hendges, Sperb-Ludwig, Fernanda, Refosco, Lilia Farret, de Souza, Carolina Fischinger Moura, Poswar, Fabiano Oliveira, Vieira, Marta Wey, Moretzsohn, Monica, Curiati, Marco Antonio, Santos, Mara Lúcia Schmitz Ferreira, do Valle, Daniel Almeida, Menezes, Ana Cecília, da Silva Baptista Arpini, Luana, Heredia, Romina Soledad, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, de Rosso Giuliani, Liane, Adjuto, Giselle Maria Araujo Felix, de Distúrbios do Ciclo da Uréia, Grupo Brasileiro

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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) von Félix, Têmis Maria, de Oliveira, Bibiana Mello, Artifon, Milena, Carvalho, Isabelle, Bernardi, Filipe Andrade, Schwartz, Ida V D, Saute, Jonas A, Ferraz, Victor E F, Acosta, Angelina X, Sorte, Ney Boa, Alves, Domingos

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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and I... von Di Lorenzo, Giorgia, Westermann, Lena M., Yorgan, Timur A., Stürznickel, Julian, Ludwig, Nataniel F., Ammer, Luise S., Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R., Board, Tim N., Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N., Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P., Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M., Schwartz, Ida V. D., Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra

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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment von Giugliani, Roberto, Federhen, Andressa, Rojas, Maria Verônica Muñoz, Vieira, Taiane, Artigalás, Osvaldo, Pinto, Louise Lapagesse, Azevedo, Ana Cecília, Acosta, Angelina, Bonfim, Carmen, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne, Bonfim, Denize, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia, Guarany, Fábio, de Lucca, Gisele Rosone, Pimentel, Helena, de Souza, Isabel Neves, Correa, Sr, Jordão, Fraga, José Carlos, Goes, José Eduardo, Cabral, José Maria, Simionato, José, Llerena, Jr, Juan, Jardim, Laura, Giuliani, Liane, da Silva, Luiz Carlos Santana, Santos, Mara L, Moreira, Maria Angela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina, Alcantara, Flavio F, Avilla, Silvio Gilberto A, Fagondes, Simone, Martins, Ana Maria

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Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy von Rosa, Rafael Fabiano Machado, Travi, Giovanni M., Valiatti, Fabiana, Zen, Paulo Ricardo Gazzola, Pinto, Louise Lapagesse, Kiss, Andrea, Graziadio, Carla, Paskulin, Giorgio Adriano

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Combined chemotherapy and teratogenicity von Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola, Pinto, Louise Lapagesse de Camargo, Rosa, Rafael, Graziadio, Carla

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Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy von Rosa, Rafael Fabiano Machado, Travi, Giovanni M, Valiatti, Fabiana, Zen, Paulo Ricardo Gazzola, Pinto, Louise Lapagesse, Kiss, Andrea, Graziadio, Carla, Paskulin, Giorgio Adriano

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