Browsing Artigos e Materiais de Revistas Científicas - FM/MPE by Title

Browsing Artigos e Materiais de Revistas Científicas - FM/MPE by Title

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  • GUIMARAES, Luciana Pache de Faria; SEGURO, Antonio Carlos; SHIMIZU, Maria Heloisa Mazzola; NERI, Leticia Aparecida Lopes; SUMITA, Nairo Massakasu; BRAGANCA, Ana Carolina de; VOLPINI, Rildo Aparecido; SANCHES, Talita Rojas Cunha; FONSECA, Fernanda Andrade Macaferri da; MOREIRA FILHO, Carlos Alberto; VAISBICH, Maria Helena (SPRINGER, NEW YORK, USA, 2014)
    Nephropathic cystinosis is an autosomal recessive systemic severe disease characterized by intralysosomal cystine storage. Cysteamine is an essential component of treatment. There is solid evidence that cystine accumulation ...
  • PETIT, F.; ESCANDE, F.; JOURDAIN, A. S.; PORCHET, N.; AMIEL, J.; DORAY, B.; DELRUE, M. A.; FLORI, E.; KIM, C. A.; MARLIN, S.; ROBERTSON, S. P.; MANOUVRIER-HANU, S.; HOLDER-ESPINASSE, M. (WILEY-BLACKWELL, HOBOKEN, USA, 2014)
    Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of ...
  • ZAMBERLAN, Patricia; CARVALHO, Werther Brunow de; DELGADO, Artur Figueiredo (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2013)
  • CERONI, Jose Ricardo Magliocco; SOARES, Diogo Cordeiro de Queiroz; TESTAI, Larissa de Cassia; KAWAHIRA, Rachel Sayuri Honjo; YAMAMOTO, Guilherme Lopes; SUGAYAMA, Sofia Mizuho Miura; OLIVEIRA, Luiz Antonio Nunes de; BERTOLA, Debora Romeo; KIM, Chong Ae (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2018)
    OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended ...
  • SILVA, Paulo Sergio Lucas da; FONSECA, Marcelo Cunio Machado; IGLESIAS, Simone Brasil Oliveira; LOPES JUNIOR, Emilio; AGUIAR, Vania Euzebio de; CARVALHO, Werther Brunow de (SPRINGER, NEW YORK, USA, 2012)
    Nebulized l-epinephrine has been recommended for the treatment of viral croup. However, the few studies assessing its effect on post-extubation stridor (PES) have shown conflicting results. We compared the efficacy and ...
  • MATALOUN, Marta M. G. B.; CARVALHO, Werther B. de; JOHNSTON, Cintia (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2015)
  • LOURENCO, Daniela M. R.; BUSCATTI, Izabel M.; LOURENCO, Benito; MONTI, Fernanda C.; PAZ, Jose Albino; SILVA, Clovis A. (ELSEVIER SCIENCE INC, NEW YORK, USA, 2014)
    Optic neuritis (ON) was rarely reported in juvenile idiopathic arthritis (JIA) patients, particularly in those under anti-tumor necrosis factor alpha blockage. However, to our knowledge, the prevalence of ON in JIA population ...
  • GASPAR, Heloisa Amaral; CARVALHO, Werther Brunow; DELGADO, Artur Figueredo (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2013)
  • SUZUKI, K. T.; TORRES, L. C.; SUGAYAMA, S. M. M.; ALVES, B. da Costa Aguiar; MOREIRA-FILHO, C. A.; CARNEIRO-SAMPAIO, M. (WILEY-BLACKWELL, HOBOKEN, USA, 2013)
  • FERRARO, A. A.; FERNANDES, M. T. B.; VIEIRA, S. E. (CAMBRIDGE UNIV PRESS, CAMBRIDGE, ENGLAND, 2016)
    The DOHaD research field has successfully associated adult non-communicable diseases with inadequate nutrition in early periods of life. More recently, different types of exposure have been linked with impaired developmental ...
  • TANNURI, Ana Cristina Aoun; CRISTOFANI, Lilian Maria; TEIXEIRA, Roberto Augusto Plaza; ODONE FILHO, Vicente; TANNURI, Uenis (Faculdade de Medicina / USP, São Paulo, BRAZIL, 2015)
    OBJECTIVE: The aim of this study was to summarize the experience of a tertiary center in treating hepatoblastoma for the last 21 years. PATIENTS AND METHODS: Fifty-eight cases were included. The tumor extent and prognosis ...
  • BORLOT, Felippe; ARANTES, Paula Ricci; QUAIO, Caio Robledo; FRANCO, Jose Francisco da Silva; LOURENCO, Charles Marques; BERTOLA, Debora Romeo; KIM, Chong Ae (ELSEVIER SCIENCE BV, AMSTERDAM, NETHERLANDS, 2014)
    Objective: Mucopolysaccharidosis type VI is a rare autosomal recessive storage disorder, caused by deficiency of arylsulfatase B. Data on neurological involvement in mucopolysaccharidosis type VI patients under enzyme-replacement ...
  • TORRES, Leuridan Cavalcante; SOARES, Diogo Cordeiro de Queiroz; KULIKOWSKI, Leslie Domenici; FRANCO, Jose Francisco; KIM, Chong Ae (ACADEMIC PRESS INC ELSEVIER SCIENCE, SAN DIEGO, USA, 2014)
    The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. Whereas the lysosome is ...
  • GOMES, Filumena Maria; SUBRAMANIAN, S. V.; ESCOBAR, Ana Maria de Ulhoa; VALENTE, Maria Helena; GRISI, Sandra Josefina Ferraz Ellero; BRENTANI, Alexandra; FINK, Guenther (PUBLIC LIBRARY SCIENCE, SAN FRANCISCO, USA, 2013)
    Background: A growing literature suggests that low birth weight increases the risk of poor health outcomes in adulthood. We tested this hypothesis among young adults living in Sao Paulo State, Brazil. Methods and Findings: ...
  • NEIVA, Flavia C. B.; LEONE, Clea R.; LEONE, Claudio; SIQUEIRA, Lisiane L.; UEMA, Katia Akiko; EVANGELISTA, Daiana; DELGADO, Susana; ROCHA, Adriana; BUHLER, Karina Bernardis (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2014)
    OBJECTIVES: The assessment of early sucking by preterm infants provides information on the ability of these infants to efficiently and safely receive nutrients via an oral route (oral feeding). To analyze the application ...
  • TOMIOKA, Renato B.; FERREIRA, Gabriela R. V.; AIKAWA, Nadia E.; MACIEL, Gustavo A. R.; SERAFINI, Paulo C.; SALLUM, Adriana M.; CAMPOS, Lucia M. A.; GOLDESTEIN-SCHAINBERG, Claudia; BONFA, Eloisa; SILVA, Clovis A. (SPRINGER LONDON LTD, LONDON, ENGLAND, 2018)
    To assess prospectively luteinized unruptured follicle (LUF) syndrome in juvenile idiopathic arthritis (JIA) patients with and without non-steroidal anti-inflammatory drugs (NSAIDs) and healthy controls. Twenty-three ...
  • LUGLIO, Michele; PANCERA, Christiane; CARVALHO, Werther Brunow de (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2015)
  • SILVA, Maria Helena Baptista Nunes da; ARAUJO, Maria Cristina Korbage de; DINIZ, Edna Maria de Albuquerque; CECCON, Maria Esther Jurfest Rivero; CARVALHO, Werther Brunow de (Sociedade Brasileira de Endocrinologia e Metabologia, São Paulo, BRAZIL, 2015)
    ABSTRACT Objective To assess hormonal changes in nonthyroidal illness syndrome (NTIS) in full-term newborns (NT) with sepsis. Materials and methods We included 28 NT with sepsis divided into 2 groups according to the time ...
  • COSTANTINI, Alice; VALTA, Helena; BARATANG, Nissan Vida; YAP, Patrick; BERTOLA, Debora R.; YAMAMOTO, Guilherme L.; KIM, Chong A.; CHEN, Jiani; WIERENGA, Klaas J.; FANNING, Elizabeth A.; ESCOBAR, Luis; MCWALTER, Kirsty; MCLAUGHLIN, Heather; WILLAERT, Rebecca; BEGTRUP, Amber; ALM, Jessica J.; REINHARDT, Dieter P.; MAKITIE, Outi; CAMPEAU, Philippe M. (ELSEVIER SCIENCE INC, NEW YORK, USA, 2019)
    Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals affected by spondylometaphyseal dysplasia with ""corner ...
  • MENEZES FILHO, Hamilton Cabral de; MARUI, Suemi; MANNA, Thais Della; BRUST, Ester Saraiva; RADONSKY, Vanessa; KUPERMAN, Hilton; DICHTCHEKENIAN, Vae; SETIAN, Nuvarte; DAMIANI, Durval (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2011)
    MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized ...

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