Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
Rocha, Júlio César, Ahring, Kirsten K, Bausell, Heather, Bilder, Deborah A, Harding, Cary O, Inwood, Anita, Longo, Nicola, Muntau, Ania C, Pessoa, André L. Santos, Rohr, Fran, Sivri, Serap, Hermida, Álvaro
Published in Nutrients (01.09.2023)
Published in Nutrients (01.09.2023)
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Journal Article
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Burton, Barbara K., Hermida, Álvaro, Bélanger-Quintana, Amaya, Bell, Heather, Bjoraker, Kendra J., Christ, Shawn E., Grant, Mitzie L., Harding, Cary O., Huijbregts, Stephan C.J., Longo, Nicola, McNutt, Markey C., Nguyen-Driver, Mina D., Santos Pessoa, André L., Rocha, Júlio César, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Sivri, H. Serap, Vockley, Jerry, Walterfang, Mark, Whittle, Sarah, Muntau, Ania C.
Published in Molecular genetics and metabolism (01.09.2022)
Published in Molecular genetics and metabolism (01.09.2022)
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Journal Article
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility
Gomes, Gustavo Rodrigues Ferreira, Mariano, Tamiris Carneiro, Braga, Vitor Lucas Lopes, Ribeiro, Erlane Marques, Guimarães, Ingred Pimentel, Pereira, Késia Sindy Alves Ferreira, Nóbrega, Paulo Ribeiro, Pessoa, André Luiz Santos
Published in Brain sciences (01.08.2023)
Published in Brain sciences (01.08.2023)
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Journal Article
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments
Braga, Vitor Lucas Lopes, Lima, Danielle Pessoa, Mariano, Tamiris Carneiro, Lima, Pedro Lucas Grangeiro de Sá Barreto, Maia, Ana Beatriz de Almeida, da Silva Meireles, Wallace William, de Oliveira Pessoa, Kécia Tavares, de Oliveira, Cristiane Mattos, Ribeiro, Erlane Marques, Nóbrega, Paulo Ribeiro, Pessoa, André Luiz Santos
Published in Brain sciences (01.11.2023)
Published in Brain sciences (01.11.2023)
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Journal Article
Lingual Frenulum Phenotypes in Brazilian Infants With Congenital Zika Syndrome
Fonteles, Cristiane Sá Roriz, Marques Ribeiro, Erlane, Sales Aragão Santos, Marinisi, Ferreira Pequeno Leite, Rebeka, Sales Assunção, Gabryela, Monteiro, André Jalles, Santos Pessoa, André Luiz, Giacheti, Célia Maria, Cavalcante Kerbage, Sáile, Ribeiro, Thyciana Rodrigues, Pamplona de Góes Cavalcanti, Luciano
Published in The Cleft palate-craniofacial journal (01.11.2018)
Published in The Cleft palate-craniofacial journal (01.11.2018)
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Journal Article
Mental Health of Parents of Children with Congenital Zika Virus Syndrome in Brazil
de Souza, Luana Elayne Cunha, de Lima, Tiago Jessé Souza, Ribeiro, Erlane Marques, Pessoa, André Luiz Santos, Figueiredo, Thamyres Costa, Lima, Luiza Barbosa Porto
Published in Journal of child and family studies (01.04.2018)
Published in Journal of child and family studies (01.04.2018)
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Journal Article
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
Samogy-Costa, Claudia Ismania, Varella-Branco, Elisa, Monfardini, Frederico, Ferraz, Helen, Fock, Rodrigo Ambrósio, Barbosa, Ricardo Henrique Almeida, Pessoa, André Luiz Santos, Perez, Ana Beatriz Alvarez, Lourenço, Naila, Vibranovski, Maria, Krepischi, Ana, Rosenberg, Carla, Passos-Bueno, Maria Rita
Published in Journal of neurodevelopmental disorders (18.07.2019)
Published in Journal of neurodevelopmental disorders (18.07.2019)
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Journal Article
Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
Nóbrega, Paulo Ribeiro, Bernardes, Anderson Moura, Ribeiro, Rodrigo Mariano, Vasconcelos, Sophia Costa, Araújo, David Augusto Batista Sá, Gama, Vitor Carneiro de Vasconcelos, Fussiger, Helena, Santos, Carolina de Figueiredo, Dias, Daniel Aguiar, Pessoa, André Luíz Santos, Pinto, Wladimir Bocca Vieira de Rezende, Saute, Jonas Alex Morales, de Souza, Paulo Victor Sgobbi, Braga-Neto, Pedro
Published in Frontiers in neurology (23.12.2022)
Published in Frontiers in neurology (23.12.2022)
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Journal Article
Abortion in Cases of Zika Virus Congenital Infection
Mota, Vivian Maria Ribeiro, Cavalcanti, Luciano Pamplona de Góes, Delfino, Alanna dos Santos, Lopes, Thayse Elaine Costa Figueiredo, Pessoa, André Luiz Santos, Ribeiro, Erlane Marques
Published in Revista Brasileira de ginecologia e obstetrícia (01.07.2018)
Published in Revista Brasileira de ginecologia e obstetrícia (01.07.2018)
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Journal Article
Answer – Abortion and Zika Virus Congenital Infection
Mota, Vivian Maria Ribeiro, Delfino, Alanna dos Santos, Lopes, Thayse Elaine Costa Figueiredo, Pessoa, André Luiz Santos, Ribeiro, Erlane Marques, Cavalcanti, Luciano Pamplona de Góes
Published in Revista Brasileira de ginecologia e obstetrícia (01.08.2018)
Published in Revista Brasileira de ginecologia e obstetrícia (01.08.2018)
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Journal Article
From the perception of a cluster of cases of children with microcephaly to congenital Zika syndrome in Brazil: the lessons we have learned and the challenges that lie ahead of us
Ribeiro, Erlane Marques, Lopes, Thayse Figueiredo, Kerbage, Sáile Cavalcante, Pessoa, André Luis Santos, Cavalcanti, Luciano Pamplona de Góes
Published in The journal of venomous animals and toxins including tropical diseases (20.03.2017)
Published in The journal of venomous animals and toxins including tropical diseases (20.03.2017)
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Journal Article
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
Paiva, Anderson Rodrigues Brandão de, Pessoa, André Luiz Santos, Nóbrega, Paulo Ribeiro, Moreno, Cristiane Araujo Martins, Lynch, David S, Taniguti, Lucas Mitsuo, Kitajima, João Paulo, Freua, Fernando, Della-Ripa, Bruno, Cunha, Paulina, Peixoto de Barcelos, Isabella, Macedo-Souza, Lúcia Inês, Takeuchi, Carlos Augusto, Garcia, Antônio Milton Silva, Nardes, Flávia, Fontão, Ramiro, Antoniuk, Sérgio Antônio, Troncoso, Monica, Spécola, Norma, Durand, Consuelo, Madeiro, Bianca de Aguiar Coelho Silva, Doriqui, Maria Juliana Rodovalho, Vergara, Diane, Houlden, Henry, Kok, Fernando
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2023)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2023)
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Journal Article
P032: Systematic literature review of the prevalence and severity of somatic comorbidities in adults with phenylketonuria
Whitehall, Kaleigh Bulloch, Rose, Sarah, Clague, Gillian, Ahring, Kirsten, Bilder, Deborah, Harding, Cary, Hermida, Álvaro, Inwood, Anita, Longo, Nicola, Maillot, François, Muntau, Ania, Pessoa, André Santos, Rocha, Júlio César, Rohr, Fran, Sivri, H. Serap, Said, Jack, Oshinbolu, Sheun, Sibbring, Gillian
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
Nóbrega, Paulo Ribeiro, Morais, João Lucas Araújo, Ferreira, Alliane Milliane, de Medeiros, Alisson Dantas, Duarte, Beatrice Araújo, Rangel, Deborah Moreira, Lima, Fabrício Oliveira, de Paiva, Anderson Rodrigues Brandão, Paim-Marques, Luciana, Kok, Fernando, Pessoa, André Luiz Santos, Braga-Neto, Pedro, Carvalho, Fernanda Martins Maia
Published in Neurological sciences (2023)
Published in Neurological sciences (2023)
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Journal Article
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
Figueiredo, Thalita, Melo, Uirá Souto, Pessoa, André Luiz Santos, Nobrega, Paulo Ribeiro, Kitajima, João Paulo, Correa, Igor, Zatz, Mayana, Kok, Fernando, Santos, Silvana
Published in Journal of medical genetics (01.02.2015)
Published in Journal of medical genetics (01.02.2015)
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Journal Article
Defining dysmorphic facial features in congenital Zika syndrome
Fonteles, Cristiane Sá Roriz, Monteiro, Francisco César, Bastos Vasconcelos, Rebeca, Jalles Monteiro, André, Maia Chaves Júnior, Cauby, Franco Marçal, Felipe, Asfor Rocha Carvalho Martins, Renata, Pereira de Oliveira, Ana Lalessa, Sá Cavalcante, Grisielle, Palhano Toscano, Bianca, Costa Figueiredo Lopes, Thayse Elaine, Gurgel Costa, Fabio Wildson, Rodrigues Ribeiro, Thyciana, Verçosa, Islane Maria Castro, Pessoa, André Luiz Santos, Pamplona de Góes Cavalcanti, Luciano, Ribeiro, Erlane Marques
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
Mendonça, Rodrigo de Holanda, Matsui, Jr, Ciro, Polido, Graziela Jorge, Silva, André Macedo Serafim, Kulikowski, Leslie, Torchio Dias, Alexandre, Zanardo, Evelin Aline, Solla, Davi Jorge Fontoura, Gurgel-Giannetti, Juliana, de Moura, Ana Carolina Monteiro Lessa, Sampaio, Gabriela Palhares Campolina, Oliveira, Acary Souza Bulle, de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Gonçalves, Eduardo Augusto, Farias, Igor Braga, Nardes, Flávia, Araújo, Alexandra Prufer de Queiroz Campos, Marques, Jr, Wilson, Tomaselli, Pedro José, Ribeiro, Mara Dell Ospedale, Kitajima, João Paulo, Paoli Monteiro, Fabíola, Saute, Jonas Alex Morales, Becker, Michele Michelin, Saraiva-Pereira, Maria Luiza, Brusius-Facchin, Ana Carolina, van der Linden, Vanessa, Florêncio, Rodrigo Neves, Barbosa, André Vinícius Soares, Machado-Costa, Marcela Camara, Pessoa, André Luiz Santos, Souza, Leticia Silva, Franca, Jr, Marcondes Cavalcante, Kok, Fernando, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Neurology. Genetics (01.10.2020)
Published in Neurology. Genetics (01.10.2020)
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Journal Article
Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers
Martins, Ana Maria, Pessoa, Andre Luiz Santos, Quesada, Andrea Amaro, Ribeiro, Erlane Marques
Published in Molecular genetics and metabolism reports (01.09.2020)
Published in Molecular genetics and metabolism reports (01.09.2020)
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Journal Article
Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)
Pessoa, Andre Luiz Santos, Quesada, Andrea Amaro, Nóbrega, Paulo Ribeiro, Viana, Ana Priscila Oliveira, de Oliveira, Kécia Tavares, Figueiredo, Thalita, Santos, Silvana, Kok, Fernando
Published in Brain sciences (01.07.2023)
Published in Brain sciences (01.07.2023)
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