Search Results - "Neto, Eduardo Vieira"

Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome by Goulart, Miriam Beatriz, Vieira Neto, Eduardo, Garcia, Daniela R Ney, Guimarães, Marília Martins, de Paiva, Isaías Soares, de Ferran, Karina, Dos Santos, Nathalia Correia Krause, Barbosa, Luciana Santos, de Figueiredo, Amanda F, Ribeiro, Maria Cecília Menks, Ribeiro, Márcia Gonçalves

“…Turner syndrome (TS) is caused by a complete or partial absence of an X or Y chromosome, including chromosomal mosaicism, affecting 1 in 2500 female live…”
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Noncommunicable diseases, risk factors, and protective factors in adults with and without health Insurance by Malta, Deborah Carvalho, Bernal, Regina Tomie Ivata, Neto, Eduardo Vieira, Curei, Kátia Audi, de Marsillac Pasinato, Maria Tereza, Lisboa, Raquel Medeiros, Cachapuz, Renata Fernandes, Coelho, Karla Santa Cruz, dos Santos, Fausto Pereira, de Freitas, Maria Imaculada Fátima

“…This study describes the coverage of health insurance and compares the occurrence of risk factors (RF) and protective factors of non-communicable diseases in…”
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Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil by Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, d. M. Carvalho, Lilian, Lacerda, Lúcia, G. Ribeiro, Márcia

“…Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes,…”
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Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set by Bösch, Florin, Landolt, Markus A., Baumgartner, Matthias R., Zeltner, Nina, Kölker, Stefan, Gleich, Florian, Burlina, Alberto, Cazzorla, Chiara, Packman, Wendy, V. D. Schwartz, Ida, Neto, Eduardo, Ribeiro, Márcia G., Martinelli, Diego, Olivieri, Giorgia, Huemer, Martina

“…Acute intoxication‐type inborn errors of metabolism (IT‐IEM) such as urea cycle disorders and non‐acute IT‐IEM such as phenylketonuria have a major impact on…”
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Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria by Vieira Neto, Eduardo, Maia Filho, Heber de Souza, Monteiro, Claudia Braga, Carvalho, Lilian de Mattos, da Cruz, Thuane Silva, de Barros, Belisia Vasconcelos, Ribeiro, Marcia Gonçalves

“…BACKGROUND Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene. When untreated, PKU leads to…”
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Genotype-phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil by Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, Carvalho, Lilian M, Lacerda, Lúcia, Ribeiro, Márcia G

“…Genetic heterogeneity and compound heterozygosis give rise to a continuous spectrum of phenylalanine hydroxylase deficiency and metabolic phenotypes in…”
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Genotype‐phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil by Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, Carvalho, Lilian M., Lacerda, Lúcia, Ribeiro, Márcia G.

“…Background Genetic heterogeneity and compound heterozygosis give rise to a continuous spectrum of phenylalanine hydroxylase deficiency and metabolic phenotypes…”
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Tendências de fatores de risco e proteção de doenças crônicas não transmissíveis na população com planos de saúde no Brasil de 2008 a 2015 by Malta, Deborah Carvalho, Bernal, Regina Tomie Ivata, Vieira Neto, Eduardo, Curci, Katia Audi, Pasinato, Maria Tereza de Marsillac, Lisbôa, Raquel Medeiros, Cachapuz, Renata Fernandes, Coelho, Karla Santa Cruz

“…RESUMO: Objetivo: Analisar as tendências de fatores de risco e proteção de doenças crônicas não transmissíveis (DCNT) e do acesso a exames preventivos na…”
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Adaptation of alpha-fetoprotein and intact human chorionic gonadotropin fluoroimmunometric assays to dried blood spots by Vieira Neto, Eduardo, Carvalho, Eulália C.D., Fonseca, Armando

“…Although dried blood spots (DBS) are very convenient for massive screening, there are very few examples of their application in maternal serum screening of…”
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Characterization of ceramide species in a mitochondrial trifunctional protein deficiency mouse model by Neto, Eduardo Vieira, Wang, Yudong, Basu, Shakuntala, Zhao, Xue-Jun, Vockley, Jerry

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ELAMIPRETIDE RESTORES MITOCHONDRIAL FUNCTION IN TRIFUNCTIONAL PROTEIN DEFICIENCY MICE AND HUMAN FIBROBLASTS by Neto, Eduardo Vieira, Wang, Yudong, Basu, Shakuntala, Zhao, Xuejun, Karunanidhi, Anuradha, Vockley, Jerry

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OP007: Cardiolipin remodeling deregulation and mitochondrial bioenergetics alterations in trifunctional protein (TFP) deficiency by Neto, Eduardo Vieira, Wang, Meicheng, Anthonymuthu, Tamil, Szuminsky, Austin, Land, Clinton Van't, Wang, Yudong, Bayır, Hülya, Vockley, Jerry

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Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency by Vieira Neto, Eduardo, Wang, Meicheng, Szuminsky, Austin J, Ferraro, Lethicia, Koppes, Erik, Wang, Yudong, Van't Land, Clinton, Mohsen, Al-Walid, Zanatta, Geancarlo, El-Gharbawy, Areeg H, Anthonymuthu, Tamil S, Tyurina, Yulia Y, Tyurin, Vladimir A, Kagan, Valerian, Bayır, Hülya, Vockley, Jerry

“…Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder leading to a block in long-chain fatty acid β-oxidation. Mutations in…”
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Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome by Kagan, Valerian E., Tyurina, Yulia Y., Mikulska-Ruminska, Karolina, Damschroder, Deena, Vieira Neto, Eduardo, Lasorsa, Alessia, Kapralov, Alexander A., Tyurin, Vladimir A., Amoscato, Andrew A., Samovich, Svetlana N., Souryavong, Austin B., Dar, Haider H., Ramim, Abu, Liang, Zhuqing, Lazcano, Pablo, Ji, Jiajia, Schmidtke, Michael W., Kiselyov, Kirill, Korkmaz, Aybike, Vladimirov, Georgy K., Artyukhova, Margarita A., Rampratap, Pushpa, Cole, Laura K., Niyatie, Ammanamanchi, Baker, Emma-Kate, Peterson, Jim, Hatch, Grant M., Atkinson, Jeffrey, Vockley, Jerry, Kühn, Bernhard, Wessells, Robert, van der Wel, Patrick C. A., Bahar, Ivet, Bayir, Hülya, Greenberg, Miriam L.

“…Barth syndrome (BTHS) is a life-threatening genetic disorder with unknown pathogenicity caused by mutations in TAFAZZIN ( TAZ ) that affect remodeling of…”
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Trends in risk and protective factors for non-communicable diseases in the population with health insurance in Brazil from 2008 to 2015 by Malta, Deborah Carvalho, Bernal, Regina Tomie Ivata, Vieira Neto, Eduardo, Curci, Katia Audi, Pasinato, Maria Tereza de Marsillac, Lisbôa, Raquel Medeiros, Cachapuz, Renata Fernandes, Coelho, Karla Santa Cruz

“…To analyze trends in risk and protective factors for non-communicable diseases (NCD) and access to preventive tests in the population with health insurance in…”
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Doenças Crônicas Não Transmissíveis e fatores de risco e proteção em adultos com ou sem plano de saúde by Malta, Deborah Carvalho, Bernal, Regina Tomie Ivata, Vieira Neto, Eduardo, Curci, Kátia Audi, Pasinato, Maria Tereza de Marsillac, Lisbôa, Raquel Medeiros, Cachapuz, Renata Fernandes, Coelho, Karla Santa Cruz, Santos, Fausto Pereira dos, Freitas, Maria Imaculada Fátima de

“…Resumo O estudo descreve as coberturas de planos de saúde e compara a ocorrência de fatores de risco (FR) e proteção de Doenças Crônicas Não Transmissíveis, na…”
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Doenças Crônicas Não Transmissíveis e fatores de risco e proteção em adultos com ou sem plano de saúde by Malta, Deborah Carvalho, Bernal, Regina Tomie Ivata, Vieira Neto, Eduardo, Curci, Kátia Audi, Pasinato, Maria Tereza de Marsillac, Lisbôa, Raquel Medeiros, Cachapuz, Renata Fernandes, Coelho, Karla Santa Cruz, Santos, Fausto Pereira dos, Freitas, Maria Imaculada Fátima de

“…Resumo O estudo descreve as coberturas de planos de saúde e compara a ocorrência de fatores de risco (FR) e proteção de Doenças Crônicas Não Transmissíveis, na…”
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Triploidia fetal associada à diminuição da subunidade beta e do estriol não-conjugado no soro materno Fetal triploidy associated with low levels of unconjugated estriol and beta-subunit in maternal serum by Eduardo Vieira Neto, Luiz Fernando Zingoni, Armando A. Fonseca

“…Relatamos um caso de triploidia fetal não-molar detectada na 20ª semana gestacional por cordocentese realizada em razão de estudo ultra-sonográfico que revelou…”
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Triploidia fetal associada à diminuição da subunidade beta e do estriol não-conjugado no soro materno by Vieira Neto, Eduardo, Zingoni, Luiz Fernando, Fonseca, Armando A.

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Feto portador de síndrome de turner e tetralogia de fallot associadas à elevação de alfafetoproteína materna by Vieira Neto, Eduardo, Liberman, Jaime, Fonseca, Armando A.

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