Search Results - "Santana da Silva, Luiz Carlos"

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment by 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

“…Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG)…”
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Fatores de risco cardiovascular e fatores associados em escolares do Município de Belém, Pará, Brasil by Ribas, Simone Augusta, Silva, Luiz Carlos Santana da

“…Este estudo transversal visou a identificar fatores de risco para doença cardiovascular em uma amostra, estratificada por conglomerados, de 557 escolares (6-19…”
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Pain perception genes, asthma, and oral health: A reverse genetics study by Lisboa, Rosany O., Sekula, Raymond F., Bezamat, Mariana, Deeley, Kathleen, Santana-da-Silva, Luiz Carlos, Vieira, Alexandre R.

“…Pain is an experience of a subjective nature, interpreted in a personal way and according to an extensive palette of factors unique to each individual…”
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A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region by Castro, Luciana Santos Serrão de, Marinho, Anderson Nonato do Rosario, Rodrigues, Elzemar Martins Ribeiro, Marques, Giorgio Christie Tavares, Carvalho, Tarcísio André Amorim de, Silva, Luiz Carlos Santana da, Santos, Sidney Emanuel Batista dos

“…Hearing impairment affects about 1 in 1000 newborns. Mutations in the connexin 26 (GJB2) gene rank among the most frequent causes of non-syndromic deafness in…”
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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings by Giugliani, Roberto, Barth, Anneliese Lopes, Dumas, Melissa Rossi Calvão, da Silva Franco, José Francisco, de Rosso Giuliani, Liane, Grangeiro, Carlos Henrique Paiva, Horovitz, Dafne Dain Gandelman, Kim, Chong Ae, de Araújo Leão, Emilia Katiane Embiruçu, de Medeiros, Paula Frassinetti Vasconcelos, Miguel, Diego Santana Chaves Geraldo, Moreira, Maria Espírito Santo Almeida, dos Santos, Helena Maria Guimarães Pimentel, da Silva, Luiz Carlos Santana, da Silva, Luiz Roberto, de Souza, Isabel Neves, Nalin, Tatiele, Garcia, Daniel

“…Abstract Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an…”
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Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome by Josahkian, Juliana Alves, Brusius‐Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Leistner‐Segal, Sandra, Málaga, Diana Rojas, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele Barbosa, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Erlane Marques, Kim, Chong Ae, Siqueira, Ana Cecília Menezes, Santos, Mara Lucia, Valle, Daniel Almeida, Silva, Raquel Tavares Boy, Horovitz, Dafne Dain Gandelman, Medeiros, Paula Frassinetti Vasconcelos, Souza, Carolina Fischinger Moura, Giuliani, Liane de Rosso, Miguel, Diego Santana Chaves Geraldo, Santana‐da‐Silva, Luiz Carlos, Galera, Marcial Francis, Giugliani, Roberto

“…Mucopolysaccharidosis type II (MPS II) is an X‐linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal…”
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Cardiovascular risk and associated factors in schoolchildren in Belém, Pará State, Brazil by Ribas, Simone Augusta, Silva, Luiz Carlos Santana da

“…This cross-sectional study aimed to identify risk factors for cardiovascular disease in a stratified cluster sample of 557 schoolchildren (6-19 years) in…”
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Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential by Duarte Gomes, Bruno, da Silva Souza, Givago, Monteiro Viana, Gustavo, Neves de Souza, Isabel Cristina, do Socorro Queiroz Feio, Patricia, Doederlein Schwartz, Ida Vanessa, Ruschel Marinho, Diane, da Silva Filho, Manoel, Giugliani, Roberto, de Lima Silveira, Luiz Carlos, Santana da Silva, Luiz Carlos

“…Purpose: To evaluate the visual system of patients suffering from type I or VI mucopolysaccharidosis (MPS) by recording the visual evoked cortical potential…”
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GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil by Amaral, Carlos Eduardo de Melo, Lopes, Patrick Farias, Ferreira, Juliana Cristina Cardoso, Alves, Erik Artur Cortinhas, Montenegro, Marcella Vieira Barroso, Costa, Edmar Tavares da, Yamada, Elizabeth Sumi, Cavalcante, Fernando Otávio Quaresma, Santana-da-Silva, Luiz Carlos

“…Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to…”
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Differential expression of the IRF6 gene in the signs of Van der Woude Syndrome: Are distinct genetic modifiers operating? by Lisboa, Rosany De Oliveira, Martins, Cláudia Maria da Rocha, Santos, Maria Elisabete Silva, Pereira, Danilo Leôncio Aguiar, Carvalho, Flávia Martinez de, Orioli, Ieda Maria, Guerreiro, João Farias, Vieira, Alexandre Rezende, Santana-da-Silva, Luiz Carlos

“…Objective: The purpose of this study was to report a new variant in the Interferon Regulatory Factor 6 gene (IRF6) and to determine phenotype-genotype…”
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Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism by Cortinhas Alves, Erik Artur, Andrade, Raissa Coelho, de Melo Amaral, Carlos Eduardo, Fernandes Caldato, Milena Coelho, Rocha Bastos, Adriana Maria, da Silva, Luiz Carlos Santana

“…Primary congenital hypothyroidism (PCH) has an incidence of approximately 1 in each 3000-4000 live births. In the last two decades, nearly 50 types of the…”
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Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence? by Santana-da-Silva, Luiz Carlos, de Oliveira, Edivaldo Herculano Correa, Cortinhas-Alves, Erik Artur, Pimentel, Clebson Pantoja

“…Background. Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) of FOXE1 gene may act as a susceptibility factor for…”
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Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report by Ferreira dos Reis, Moema, Pinheiro, Lucas Rodrigues, Pinheiro, Maria das Graças Rodrigues, Almeida, Haroldo Amorim, Feio, Patrícia do Socorro Queiroz, Almeida, Sâmia Cordovil, Souza, Isabel Cristina Neves, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein, Cavaleiro, Rosely Maria dos Santos, Pinheiro, João de Jesus Viana, da Silva, Luiz Carlos Santana

“…ABSTRACT Objective Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12‐13)…”
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Dyslipidemia in schoolchildren from private schools in Belém by Ribas, Simone Augusta, Silva, Luiz Carlos Santana da

“…Currently, childhood dyslipidemia, associated to other non-transmissible diseases such as diabetes, hypertension and obesity, represent a significant public…”
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Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint by Cavaleiro, Rosely Maria dos Santos, DDS, MS, Pinheiro, Maria das G. Rodrigues, DDS, MS, Pinheiro, Lucas R., DDS, Tuji, Fabrício Mesquita, DDS, MS, PhD, Feio, Patrícia do Socorro Queiróz, DDS, MS, de Souza, Isabel Cristina Neves, MD, MS, Feio, Raimunda Helena Ferreira, MD, MS, de Almeida, Sâmia Cordovil, Schwartz, Ida Vanessa Doederlein, MD, MS, PhD, Giugliani, Roberto, MD, MS, PhD, Pinheiro, João J.V., DDS, MS, PhD, Santana-da-Silva, Luiz Carlos, MS, PhD

“…Objectives Using a clinical survey, panoramic, cone-beam computed tomography (CBCT), and magnetic resonance (MR) imaging, this study was conducted to ascertain…”
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The Cardiovascular Health Integrated Lifestyle Diet (CHILD) Lowers LDL-Cholesterol Levels in Brazilian Dyslipidemic Pediatric Patients by Ribas, Simone Augusta, Paravidino, Vitor Barreto, Brandão, Joana Maia, Santana da Silva, Luiz Carlos

“…To analyze the impact of the CHILD-2 diet on the lipid profile of Brazilian children and adolescents with dyslipidemia. This is a quasi-experimental study,…”
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Effects of psyllium on LDL-cholesterol concentrations in Brazilian children and adolescents: a randomised, placebo-controlled, parallel clinical trial by Ribas, Simone Augusta, Cunha, Diana Barbosa, Sichieri, Rosely, Santana da Silva, Luiz Carlos

“…The present study investigated the LDL-cholesterol (LDL-C)-lowering effects of psyllium in Brazilian dyslipidaemic children and adolescents. A total of…”
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PHENYLKETONURIA'S GENETIC LANDSCAPE IN BRAZIL by 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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General overview of urea cycle disorders (UCDs) in Brazil by 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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An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean by Jardim, Laura Bannach, Hasan, Ali, Kuo, Sheng-han, Magaña, Jonathan Javier, França, Marcondes, Marques, Wilson, Camejo, Claudia, Santana-da-Silva, Luiz Carlos, Leão, Emília Embiruçu, Espíndola, Gisele, Canals, Francisca, Miranda, Marcelo, Salvatierra, Igor, Cornejo-Olivas, Mario, Fernandez-Ruiz, Juan, Braga-Neto, Pedro, Dávila-Ortiz de Montellano, David José, Flores-Lagunes, Luis Leonardo, Dupré, Nicolas, Brais, Bernard, Vargas, Fernando Regla, Godeiro, Clécio, Coutinho, Léo, Teive, Helio G., Kaufmann, Marcelo, Saffie, Paula, Furtado, Gabriel Vasata, Saraiva-Pereira, Maria Luiza, Barsottini, Orlando, Pedroso, José Luiz, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis, Gomez, Christopher

“…Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted…”
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