Search Results - "Valadares, Eugênia"

What is new in genetics and osteogenesis imperfecta classification? by Valadares, Eugênia R., Carneiro, Túlio B., Santos, Paula M., Oliveira, Ana Cristina, Zabel, Bernhard

“…Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. Literature review in the PubMed and OMIM databases,…”
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Quantitative analysis of amino acids by HPLC in dried blood and urine in the neonatal period: Establishment of reference values by Nolasco, Daniela M., Fortes, Isabel C. P., Valadares, Eugênia R.

“…Quantitative analysis of amino acids in blood and urine is primarily indicated for the diagnosis of amino acid disorders. The high‐performance liquid…”
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Autism and Down syndrome: early identification and diagnosis by Diniz, Natália Lisce Fioravante, Parlato-Oliveira, Erika, Pimenta, Priscila Gonçalves Ayres, Araújo, Liubiana Arantes de, Valadares, Eugênia Ribeiro

“…The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral…”
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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes by Aguiar, Talita, Teixeira, Anne, Scliar, Marília O, Sobral de Barros, Juliana, Lemes, Renan B, Souza, Silvia, Tolezano, Giovanna, Santos, Fernanda, Tojal, Israel, Cypriano, Monica, Caminada de Toledo, Silvia Regina, Valadares, Eugênia, Borges Pinto, Raquel, Pinto Artigalas, Osvaldo Afonso, Caetano de Aguirre Neto, Joaquim, Novak, Estela, Cristofani, Lilian Maria, Miura Sugayama, Sofia M, Odone, Vicente, Cunha, Isabela Werneck, Lima da Costa, Cecilia Maria, Rosenberg, Carla, Krepischi, Ana

“…The ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk is related to a few rare syndromes, and the molecular bases remain elusive…”
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Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype–phenotype correlations by Linhares, Natália D, Svartman, Marta, Rodrigues, Tatiane C, Rosenberg, Carla, Valadares, Eugênia R

“…Abstract The 6p terminal deletions are rare and present variability of clinical features, which increases the importance of reporting additional cases in order…”
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Guidelines for the Management of Mucopolysaccharidosis Type I by 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

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Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients by Sperb-Ludwig, Fernanda, Pinheiro, Franciele Cabral, Bettio Soares, Malu, Nalin, Tatiele, Ribeiro, Erlane Marques, Steiner, Carlos Eduardo, Ribeiro Valadares, Eugênia, Porta, Gilda, Fishinger Moura de Souza, Carolina, Schwartz, Ida Vanessa Doederlein

“…Background Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver…”
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Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study by Teixeira, Suélen Alves, Santos, Paula Carolina Mendes, Carneiro, Túlio Canella Bezerra, Paiva, Saul Martins, Valadares, Eugênia Ribeiro, Borges‐Oliveira, Ana Cristina

“…Background The relevance of sense of coherence (SOC) is important to the wellbeing of parents, especially mothers of children and adolescents with osteogenesis…”
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A dose-optimization trial of laronidase (Aldurazyme ®) in patients with mucopolysaccharidosis I by Giugliani, Roberto, Rojas, Verónica Muñoz, Martins, Ana Maria, Valadares, Eugênia R., Clarke, Joe T.R., Góes, José E.C., Kakkis, Emil D., Worden, Mary Alice, Sidman, Marisa, Cox, Gerald F.

“…Recombinant human α- l-iduronidase (Aldurazyme ®, laronidase) is approved as an enzyme replacement therapy to treat the lysosomal storage disorder,…”
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Oral health of children and adolescents with mucopolysaccharidosis and mother's Sense of Coherence by Ruy Carneiro, Natália Cristina, Duda Deps, Tahyná, Campos França, Esdras, Ribeiro Valadares, Eugênia, Almeida Pordeus, Isabela, Borges‐Oliveira, Ana Cristina

“…Aims The purpose of this study is assess the association between mother's Sense of Coherence (SOC) and the oral health status of children with and without…”
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A clinical study of 77 patients with mucopolysaccharidosis type II by Schwartz, Ida VD, Ribeiro, Márcia G, Mota, João G, Toralles, Maria Betânia P, Correia, Patrícia, Horovitz, Dafne, Santos, Emerson S, Monlleo, Isabella L, Fett-Conte, Agnes C, Sobrinho, Ruy P Oliveira, Norato, Denise YJ, Paula, Anna Carolina, Kim, Chong A, Duarte, Andréa R, Boy, Raquel, Valadares, Eugênia, De Michelena, Maria, Mabe, Paulina, Martinhago, Cyro D, Pina-Neto, João M, Kok, Fernando, Leistner-Segal, Sandra, Burin, Maira G, Giugliani, Roberto

“…Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). Methods: Details…”
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Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network by 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

“…Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of…”
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Hereditary fructose intolerance in Brazilian patients by Valadares, Eugênia Ribeiro, Cruz, Ana Facury da, Adelino, Talita Emile Ribeiro, Kanufre, Viviane de Cássia, Ribeiro, Maria do Carmo, Penido, Maria Goretti Moreira Guimarães, Peret Filho, Luciano Amedee, Valadares, Laís Maria Santos Valadares e

“…Hereditary fructose intolerance (HFI) is a rare inborn error of carbohydrate metabolism, autosomal recessive, caused by mutations in the gene ALDOB, leading to…”
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Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil by Valadares, Eugênia Ribeiro, Pizarro, Mayara Xavier, Oliveira, Luiz Roberto, Amorim, Regina Helena Caldas de, Pinheiro, Tarcísio Márcio Magalhães, Grieben, Ulrike, Santos, Helena Hollanda, Queiroz, Rachel Rabelo, Lopes, Guilherme de Castro, Godard, Ana Lúcia Brunialti

“…Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of…”
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De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females by Li, Dong, Strong, Alanna, Shen, Kaitlyn M., Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D.J., Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, Bhoj, Elizabeth

“…Hardikar syndrome (MIM 612726) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and…”
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Neurofibromatoses: part 1 - diagnosis and differential diagnosis by Rodrigues, Luiz Oswaldo Carneiro, Batista, Pollyanna Barros, Goloni-Bertollo, Eny Maria, de Souza-Costa, Danielle, Eliam, Lucas, Eliam, Miguel, Cunha, Karin Soares Gonçalves, Darrigo-Junior, Luiz Guilherme, Ferraz-Filho, José Roberto Lopes, Geller, Mauro, Gianordoli-Nascimento, Ingrid F, Madeira, Luciana Gonçalves, Malloy-Diniz, Leandro Fernandes, Mendes, Hérika Martins, de Miranda, Débora Marques, Pavarino, Erika Cristina, Baptista-Pereira, Luciana, Rezende, Nilton A, Rodrigues, Luíza de Oliveira, da Silva, Carla Menezes, de Souza, Juliana Ferreira, de Souza, Márcio Leandro Ribeiro, Stangherlin, Aline, Valadares, Eugênia Ribeiro, Vidigal, Paula Vieira Teixeira

“…Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2)…”
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Amino acid reference intervals by high performance liquid chromatography in plasma sample of Brazilian children by Cruz, Ana F., Barbosa, Tatiana Maria C. C., Adelino, Talita Émile R., Lima, William P., Mendes, Magda O., Valadares, Eugênia R.

“…ABSTRACT Introduction: The high performance liquid chromatography is a technique used for quantification of amino acids in plasma. The definition of reference…”
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X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells by Ho, Bianca, Greenlaw, Keelin, Al Tuwaijri, Abeer, Moussette, Sanny, Martínez, Francisco, Giorgio, Elisa, Brusco, Alfredo, Ferrero, Giovanni Battista, Linhares, Natália D, Valadares, Eugênia R, Svartman, Marta, Kalscheuer, Vera M, Rodríguez Criado, Germán, Laprise, Catherine, Greenwood, Celia M T, Naumova, Anna K

“…Sexual dimorphism in DNA methylation levels is a recurrent epigenetic feature in different human cell types and has been implicated in predisposition to…”
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Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter by Missaglia, Sara, Valadares, Eugenia Ribeiro, Moro, Laura, Faguntes, Eleonora Druve Tavares, Quintão Roque, Raquel, Giardina, Bruno, Tavian, Daniela

“…α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of…”
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Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia by Alves Júnior, Ailton C., Daker, Maurício V., Machado, Alexei M.C., Luna, Alan S., Valladares Neto, Dirceu C., Valadares, Eugenia R.

“…Although the diurnal fluctuation of motor dysfunction, reversible with small doses of dopamine, is a cornerstone for the phenotype of the autosomal dominant…”
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