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Published in European journal of pediatrics (01.01.2012)
Published in European journal of pediatrics (01.01.2012)
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ACE activity is modulated by the enzyme α-galactosidase A
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Published in Journal of molecular medicine (Berlin, Germany) (2011)
Published in Journal of molecular medicine (Berlin, Germany) (2011)
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New mutations in the GLA gene in Brazilian families with Fabry disease
Turaça, Lauro Thiago, Pessoa, Juliana Gilbert, Motta, Fabiana Louise, Muñoz Rojas, Maria Verônica, Müller, Karen Barbosa, Lourenço, Charles Marques, Junior Marques, Wilson, D'Almeida, Vania, Martins, Ana Maria, Pesquero, João Bosco
Published in Journal of human genetics (01.06.2012)
Published in Journal of human genetics (01.06.2012)
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Novel GAA mutations in patients with Pompe disease
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Published in Gene (25.04.2015)
Published in Gene (25.04.2015)
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Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression
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Published in American journal of medical genetics. Part A (01.10.2008)
Published in American journal of medical genetics. Part A (01.10.2008)
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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
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
Published in Genetics and molecular biology (01.01.2010)
Published in Genetics and molecular biology (01.01.2010)
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Guidelines for the Management of Mucopolysaccharidosis Type I
Martins, Ana Maria, MD, PhD, Dualibi, Ana Paula, MD, PhD, Norato, Denise, MD, PhD, Takata, Edna Tiemi, MD, Santos, Emerson S., MD, Valadares, Eugênia Ribeiro, MD, PhD, Porta, Gilda, MD, PhD, de Luca, Gisele, MD, Moreira, Gustavo, MD, PhD, Pimentel, Helena, MD, Coelho, Janice, PhD, Brum, Jaime Moritz, MD, PhD, Filho, José Semionato, MD, Kerstenetzky, Marcelo Soares, MD, Guimarães, Márcia R., MD, Muñoz Rojas, Maria Verónica, MD, Aranda, Paulo Cesar, MD, Pires, Ricardo Flores, MD, Faria, Rodrigo G.C., MD, Mota, Ronald Moura Vale, MD, Matte, Ursula, PhD, Guedes, Zelita Caldeira Ferreira, PhD
Published in The Journal of pediatrics (01.10.2009)
Published in The Journal of pediatrics (01.10.2009)
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Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Jones, Simon A., McGovern, Margaret, Lidove, Olivier, Giugliani, Roberto, Mistry, Pramod K., Dionisi-Vici, Carlo, Munoz-Rojas, Maria-Veronica, Nalysnyk, Lubomyra, Schecter, Alison D., Wasserstein, Melissa
Published in Molecular genetics and metabolism (01.09.2020)
Published in Molecular genetics and metabolism (01.09.2020)
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Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I
Giugliani, Roberto, Vieira, Taiane Alves, Carvalho, Clarissa Gutierrez, Muñoz-Rojas, Maria-Veronica, Semyachkina, Alla N., Voinova, Victoria Y., Richards, Susan, Cox, Gerald F., Xue, Yong
Published in Molecular genetics and metabolism reports (01.03.2017)
Published in Molecular genetics and metabolism reports (01.03.2017)
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Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study
Pulikottil-Jacob, Ruth, Dehipawala, Sumudu, Smith, Brittany, Athavale, Amod, Gusto, Gaelle, Chandak, Aastha, Khachatryan, Artak, Banon, Tamar, Fournier, Marie, Guillonneau, Sophie, Pollissard, Laurence, Munoz-Rojas, Maria Veronica
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights
Martins, Ana Maria, Lindstrom, Kristin, Kyosen, Sandra Obikawa, Munoz-Rojas, Maria Veronica, Thibault, Nathan, Polgreen, Lynda E
Published in BMC endocrine disorders (12.11.2018)
Published in BMC endocrine disorders (12.11.2018)
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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
de Ru, Minke H, Teunissen, Quirine Ga, van der Lee, Johanna H, Beck, Michael, Bodamer, Olaf A, Clarke, Lorne A, Hollak, Carla E, Lin, Shuan-Pei, Rojas, Maria-Verónica Muñoz, Pastores, Gregory M, Raiman, Julian A, Scarpa, Maurizio, Treacy, Eileen P, Tylki-Szymanska, Anna, Wraith, J Edmond, Zeman, Jiri, Wijburg, Frits A
Published in Orphanet journal of rare diseases (23.04.2012)
Published in Orphanet journal of rare diseases (23.04.2012)
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The Brazilian Consensus on the Management of Pompe Disease
Llerena, Juan C., MD, PhD, Horovitz, Dafne Maria, MD, PhD, Nagahashi Marie, Suely Kazue, PhD, Porta, Gilda, MD, PhD, Giugliani, Roberto, MD, PhD, Muñoz Rojas, Maria Verónica, MD, Martins, Ana Maria, MD, PhD
Published in The Journal of pediatrics (01.10.2009)
Published in The Journal of pediatrics (01.10.2009)
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Awareness of MPS I among cardiologists
Munoz-Rojas, Maria Veronica, Pangaud, Nicolas, Valayannopoulos, Vassili
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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ACE activity is modulated by the enzyme [alpha]-galactosidase A
Batista, Elice Carneiro, Carvalho, Luiz Roberto, Casarini, Dulce Elena, Carmona, Adriana Karaoglanovic, Dos Santos, Edson Lucas, Da Silva, Elton Dias, Dos Santos, Robson Augusto, Nakaie, Clovis Ryuichi, Rojas, Maria Verônica; Munoz, de Oliveira, Suzana Macedo, Bader, Michael, D'almeida, Vânia, Martins, Ana Maria, de Picoly Souza, Kely, Pesquero, João Bosco
Published in Journal of molecular medicine (Berlin, Germany) (01.01.2011)
Published in Journal of molecular medicine (Berlin, Germany) (01.01.2011)
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Survival of patients with acid sphingomyelinase deficiency (ASMD) in the United States (US): A retrospective real-world study
Pulikottil-Jacob, Ruth, Munoz-Rojas, Maria Veronica, Gusto, Gaelle, Chandak, Aastha, Khachatryan, Artak, Banon, Tamar, Dehipawala, Sumudu, Smith, Brittany, Athavale, Amod, Fournier, Marie, Guillonneau, Sophie, Msihid, Jérôme, Pollissard, Laurence, Laredo, Fernando
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Guidelines for the Management of Mucopolysaccharidosis Type I: Brazilian Guidelines to Diagnosis, Treatment, and Monitoring for Gaucher Disease, Fabry Disease, Mucopolissacharidosis Type I, and Pompe Disease
MARTINS, Ana Maria, DUALIBI, Ana Paula, COELHO, Janice, MORITZ BRUM, Jaime, SEMIONATO, José, SOARES KERSTENETZKY, Marcelo, GUIMARAES, Márcia R, MUNOZ ROJAS, Maria Verônica, CESAR ARANDA, Paulo, FLORES PIRES, Ricardo, FARIA, Rodrigo G. C, VALE MOTA, Ronald Moura, NORATO, Denise, MATTE, Ursula, FERREIRA GUEDES, Zelita Caldeira, TIEMI TAKATA, Edna, SANTOS, Emerson S, VALADARES, Eugênia Ribeiro, PORTA, Gilda, DE LUCA, Gisele, MOREIRA, Gustavo, PIMENTEL, Helena
Published in The Journal of pediatrics (2009)
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Published in The Journal of pediatrics (2009)
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Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world
Muñoz-Rojas, María Verónica, Bay, Luisa, Sanchez, Luz, van Kuijck, Marcel, Ospina, Sandra, Cabello, Juan Francisco, Martins, Ana Maria
Published in Journal of inherited metabolic disease (01.10.2011)
Published in Journal of inherited metabolic disease (01.10.2011)
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