Search Results - "Aguiar, Marcos J B"

Hydrolysis degree, peptide profile and phenylalanine removal from whey protein concentrate hydrolysates obtained by various proteases by Silvestre, Marialice P. C., da Silva, Maitê C., de Souza, Mariana W. S., Silva, Viviane D. M., de Aguiar, Marcos J. B., Silva, Mauro R.

“…Summary The action of various proteases was tested for preparing whey protein concentrate (WPC) hydrolysates with high degree of hydrolysis (DH), appropriate…”
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Mutational analysis of two boys with the severe perinatally lethal Melnick–Needles syndrome by Santos, Helena H., Garcia, Paula P., Pereira, Latife, Leão, Letícia L., Aguiar, Regina A.P.L., Lana, Ana M.A., Carvalho, Maria Raquel S., Aguiar, Marcos J.B.

“…Melnick–Needles syndrome (MNS) (OMIM 309350) is a rare, X‐linked dominant condition, caused by mutations in the filamin A gene (FLNA, on Xq28). In females, the…”
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Pre and perinatal aspects of congenital cystic adenomatoid malformation of the lung by Lima, Joziele S., Camargos, Paulo A. M., Aguiar, Regina A. L. P., Campos, Angela S., Aguiar, Marcos J. B.

“…Abstract Objective: To identify the incidence of congenital cystic adenomatoid malformation of the lung (CCAM) at birth; to evaluate prenatal and perinatal…”
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A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome by Machado, Renato A., Ferreira, Shirlene B., Martins, Luciane, Ribeiro, Mariana M., Martelli, Daniella R. B., Coletta, Ricardo D., Aguiar, Marcos J. B., Martelli‐Júnior, Hercílio

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Metabolic syndrome in children and adolescents with phenylketonuria by Kanufre, Viviane C., Soares, Rosângelis D.L., Alves, Michelle Rosa A., Aguiar, Marcos J.B., Starling, Ana Lúcia P., Norton, Rocksane C.

“…This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). This was a cross-sectional study consisting of 58 PKU…”
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Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil by Alves, Michelle R A, Starling, Ana L P, Kanufre, Viviane C, Soares, Rosângelis D L, Norton, Rocksane de C, Aguiar, Marcos J B, Januario, José N

“…To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria. The study prospectively evaluated 54 children with…”
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High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil by Lara, Marilis T., Gurgel-Giannetti, Juliana, Aguiar, Marcos J. B., Ladeira, Roberto V. P., Carvalho, Nara O., del Castillo, Dora M., Viana, Marcos B., Januario, José N.

“…Objective: To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to one year of age in a large pilot screening study…”
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Inbreeding and PKU allele frequency: Estimating by microsatellite approaches by Santos, Luciana L., da Fonseca, Cleusa G., Vaintraub, Marco T., Vaintraub, Patricia, Januário, José N., de Aguiar, Marcos J.B., Raquel Santos Carvalho, Maria

“…: Estimates of allele frequencies for recessive diseases are generally based on the frequency of affected individuals (q2). However, these estimates can be…”
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Breastfeeding in the treatment of children with phenylketonuria by Kanufre, Viviane C, Starling, Ana L P, Leão, Ennio, Aguiar, Marcos J B, Santos, Jacqueline S, Soares, Rosângelis D L, Silveira, Adriana M

“…To evaluate the effect of breastmilk as a source of phenylalanine (phe) on levels of this amino acid and on growth in phenylketonuric infants. The study…”
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Presentation of congenital heart disease diagnosed at birth: analysis of 29,770 newborn infants by Amorim, Lúcia F P, Pires, Catarina A B, Lana, Ana Maria A, Campos, Angela S, Aguiar, Regina A L P, Tibúrcio, Jacqueline Domingues, Siqueira, Arminda Lúcia, Mota, Cleonice C C, Aguiar, Marcos J B

“…To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990…”
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Estado nutricional e ingestão de selênio em crianças com fenilcetonúria em Minas Gerais, Brasil by Alves, Michelle R. A., Starling, Ana L. P., Kanufre, Viviane C., Soares, Rosângelis D. L., Norton, Rocksane de C., Aguiar, Marcos J. B., Januario, José N.

“…OBJETIVO: Avaliar a ingestão alimentar e o estado nutricional em selênio em pacientes com fenilcetonúria. MÉTODOS: Foram avaliados prospectivamente 54 crianças…”
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O aleitamento materno no tratamento de crianças com fenilcetonúria by Kanufre, Viviane C., Starling, Ana L. P., Leão, Ennio, Aguiar, Marcos J. B., Santos, Jacqueline S., Soares, Rosângelis D. L., Silveira, Adriana M.

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O aleitamento materno no tratamento de crianças com fenilcetonúria Breastfeeding in the treatment of children with phenylketonuria by Viviane C. Kanufre, Ana L. P. Starling, Ennio Leão, Marcos J. B. Aguiar, Jacqueline S. Santos, Rosângelis D. L. Soares, Adriana M. Silveira

“…OBJETIVO: Avaliar o efeito do leite materno como fonte de fenilalanina (phe) nos níveis sangüíneos desse aminoácido e no crescimento de fenilcetonúricos…”
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Apresentação das cardiopatias congênitas diagnosticadas ao nascimento: análise de 29.770 recém-nascidos by Amorim, Lúcia F. P., Pires, Catarina A. B., Lana, Ana Maria A., Campos, Ângela S., Aguiar, Regina A. L. P., Tibúrcio, Jacqueline Domingues, Siqueira, Arminda Lúcia, Mota, Cleonice C. C., Aguiar, Marcos J. B.

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Apresentação das cardiopatias congênitas diagnosticadas ao nascimento: análise de 29.770 recém-nascidos Presentation of congenital heart disease diagnosed at birth: analysis of 29,770 newborn infants by Lúcia F. P. Amorim, Catarina A. B. Pires, Ana Maria A. Lana, Ângela S. Campos, Regina A. L. P. Aguiar, Jacqueline Domingues Tibúrcio, Arminda Lúcia Siqueira, Cleonice C. C. Mota, Marcos J. B. Aguiar

“…OBJETIVO: Estimar a prevalência e estudar apresentações clínicas e fatores associados às cardiopatias congênitas, diagnosticadas ao nascimento, entre agosto de…”
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Neural tube defects and associated factors in liveborn and stillborn infants by Aguiar, Marcos J B, Campos, Angela S, Aguiar, Regina A L P, Lana, Ana Maria A, Magalhães, Renata L, Babeto, Luciana T

“…To evaluate the prevalence and factors associated to neural tube defects in liveborn and stillborn infants delivered at the Hospital das Clínicas, UFMG, from…”
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Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil by VERCESI, ANDRÉIA M L, CARVALHO, MARIA RAQUEL S, AGUIAR, MARCOS J B, PENA, SÉRGIO D J

“…[...]their finding of four affected out of 285 tested is not significantly different from zero by any statistical procedure. [...]their study population…”
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A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome by Machado, Renato A, Ferreira, Shirlene B, Martins, Luciane, Ribeiro, Mariana M, Martelli, Daniella R B, Coletta, Ricardo D, Aguiar, Marcos J B, Martelli-Júnior, Hercílio

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O aleitamento materno no tratamento de crianças com fenilcetonúria by Kanufre, Viviane C., Starling, Ana L. P., Leão, Ennio, Aguiar, Marcos J. B., Santos, Jacqueline S., Soares, Rosângelis D. L., Silveira, Adriana M.

“…OBJETIVO: Avaliar o efeito do leite materno como fonte de fenilalanina (phe) nos níveis sangüíneos desse aminoácido e no crescimento de fenilcetonúricos…”
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Apresentação das cardiopatias congênitas diagnosticadas ao nascimento: análise de 29.770 recém-nascidos by Amorim, Lúcia F. P., Pires, Catarina A. B., Lana, Ana Maria A., Campos, Ângela S., Aguiar, Regina A. L. P., Tibúrcio, Jacqueline Domingues, Siqueira, Arminda Lúcia, Mota, Cleonice C. C., Aguiar, Marcos J. B.

“…OBJETIVO: Estimar a prevalência e estudar apresentações clínicas e fatores associados às cardiopatias congênitas, diagnosticadas ao nascimento, entre agosto de…”
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