Correspondence on “Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect” by Nizon et al
Ferraz, Marina Kossmann, Esposito, Ana Carolina, Schmidt, Cláudio, Lima, Maria Angélica, Vargas, Fernando Regla
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair
Lacarrubba‐Flores, Maria Dora Jazmin, Carvalho, Daniel Rocha, Ribeiro, Erlane Marques, Moreno, Carolina Araujo, Esposito, Ana Carolina, Marson, Fernando Augusto Lima, Loureiro, Thereza, Cavalcanti, Denise Pontes
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis i
Martins, Ana M., Acosta, Angelina X., Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarina, Tchan, Michel C., Barth, Anneliese Lopes, Cardoso, Laercio, de Araújo Leão, Emilia Katiane Embiruçu, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Horovitz, Dafne Dain Gandelman
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Horovitz, Dafne Dain Gandelman, Acosta, Angelina X, Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarína, Tchan, Michel C, Lopes Barth, Anneliese, Cardoso, Jr, Laercio, Embiruçu de Araújo Leão, Emília Katiane, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Martins, Ana Maria
Published in Orphanet journal of rare diseases (29.04.2016)
Published in Orphanet journal of rare diseases (29.04.2016)
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Enzyme replacement therapy with double-dose Iaronidase every other week is safe and effective: case reports and glycosaminoglycan excretion patterns in ten mucopolysaccharidosis type I patients
Souza, Carolina, Horovitz, Dafne, Acosta, Angelina, Esposito, Ana Carolina, Oliveira, Maria Lucia, Scalco, Fernanda, Cardoso, Laercio, Leão, Emilia, Vairo, Filippo, Llerena, Juan, Giugliani, Roberto
Published in Molecular genetics and metabolism (01.02.2014)
Published in Molecular genetics and metabolism (01.02.2014)
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Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil
Vieira, Daniela Koeller Rodrigues, Attianezi, Margareth, Esposito, Ana Carolina, Barth, Anneliese, Sequeira, Cecília, Krause, Nathália, Oliveira, Vivian, Lucidi, Alexandre, Serao, Cassio, Llerena, Juan C.
Published in Journal of community genetics (01.01.2015)
Published in Journal of community genetics (01.01.2015)
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Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings - Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease
Llerena, Jr, Juan C, Esposito, Ana Carolina, Barth, Anneliese, Souza E Silva, Daniel, Cavalcanti, Nicollete, Sixel, Bruna, Magalhães, Tatiana, Scalco, Fernanda, Oliveira, Maria Lúcia, Riello, Anna Patrícia, Horotvitz, Dafne
Published in Journal of neuromuscular diseases (2015)
Published in Journal of neuromuscular diseases (2015)
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