Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Fernanda Hendges de Bitencourt"'
Autor:
Mariana Lopes dos Santos, Dévora Natalia Randon, Fernanda Hendges de Bitencourt, Fernanda Sperb-Ludwig, Fernanda Sales Luiz Vianna, Carmen Regla Vargas, Angela Sitta, Ida Vanessa Doederlein Schwartz, Yong-Qing Zhu
Publikováno v:
Reproductive and Developmental Medicine, Vol 6, Iss 2, Pp 92-97 (2022)
Abstract. Objectives:. To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods:. This was an obser
Externí odkaz:
https://doaj.org/article/76ddd50c952140f2ab5a73290d042e5d
Autor:
Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 96, Iss 6, Pp 710-716 (2020)
Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross‐section
Externí odkaz:
https://doaj.org/article/ba537b9075d24652868ef0d9b035e274
Autor:
Fernanda Medeiros Sebastião, Maira Graeff Burin, Gabriel Civallero, Kristiane Michelin Tirelli, Angela Sitta, Daniella de Moura Coelho, Carmen Regla Vargas, Moacir Wajner, Roberto Giugliani, Fernanda Hendges de Bitencourt, Ida Vanessa Doederlein Schwartz
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma usin
Externí odkaz:
https://doaj.org/article/eb149316c07c43b897c7c1aa5235fb39
Autor:
Fernanda Hendges de Bitencourt, Mayna Yaçanã Borges de Avila, Monica Vinhas de Souza, Taiane Alves Vieira, Ida Vanessa Doederlein Schwartz
Publikováno v:
Clinical and Biomedical Research, Vol 34, Iss 1 (2014)
A mucopolissacaridose tipo I (MPS I) é uma doença lisossômica (DL) para qual está disponível a terapia de reposição enzimática (TRE) com laronidase. Objetivo: caracterizar o efeito da TRE em pacientes com MPS I avaliados por um único centro
Externí odkaz:
https://doaj.org/article/b10d1f55c5a344d8bce2db06d1fe39c5
Autor:
Fernanda Bender, Maira G. Burin, Kristiane M. Tirelli, Fernanda Medeiros, Fernanda Hendges de Bitencourt, Gabriel Civallero, Francyne Kubaski, Heydy Bravo, Antoine Daher, Vanessa Carnier, José F. S. Franco, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology
Abstract Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosi
Externí odkaz:
https://doaj.org/article/5ce6ed24daa74d5bb3c061e2e843345f
Autor:
Filippo Vairo, Ana Paula Pereira Scholz de Magalhães, Ida Vanessa Doederlein Schwartz, Carolina Fischinger Moura de Souza, Fernanda Medeiros Sebastião, Maira Graeff Burin, Thiago Oliveira Silva, Fernanda Hendges de Bitencourt
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 96, Iss 6, Pp 710-716 (2020)
Jornal de Pediatria v.96 n.6 2020
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria, Vol 96, Iss 6, Pp 710-716 (2020)
Jornal de Pediatria, Volume: 96, Issue: 6, Pages: 710-716, Published: 14 DEC 2020
Jornal de Pediatria v.96 n.6 2020
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria, Vol 96, Iss 6, Pp 710-716 (2020)
Jornal de Pediatria, Volume: 96, Issue: 6, Pages: 710-716, Published: 14 DEC 2020
Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fcde102f7cde0fc24d1fd240156cd09
http://www.sciencedirect.com/science/article/pii/S225555361930196X
http://www.sciencedirect.com/science/article/pii/S225555361930196X
Autor:
Fernanda Sales Luiz Vianna, Alexia Nedel Sant'Ana, Ana Paula Pizzio Becker, Fernanda Hendges de Bitencourt, Carmen Regla Vargas, Dévora N Randon, Fernanda Sperb-Ludwig, Angela Sitta, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 43, Iss 3 (2020)
Genetics and Molecular Biology
Genetics and Molecular Biology
Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut0 methylmalonic acidemia (mut0 MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89633d9154a7c130a0a09047a23803b6
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500104&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500104&tlng=en
Autor:
Fernanda Hendges de Bitencourt, Fernanda da Silva Medeiros, Fernanda Bender, Maira Graeff Burin, Antoine Daher, José Francisco Da Silva Franco, Francyne Kubaski, Kristiane Michelin Tirelli, Heydy Bravo, Gabriel Civallero, Roberto Giugliani, Vanessa Carnier
Publikováno v:
Genetics and Molecular Biology
Genetics and Molecular Biology v.43 n.2 2020
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology v.43 n.2 2020
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07eac2e35f2d13026a75ed93d3993233
https://doi.org/10.1590/1678-4685-gmb-2018-0334
https://doi.org/10.1590/1678-4685-gmb-2018-0334
Autor:
Carlos Eduardo Steiner, Taiane Alves Vieira, Fernanda Hendges de Bitencourt, Ida Vanessa Doederlein Schwartz, Jordão Correa Neto, Raquel Boy
Publikováno v:
Value in Health Regional Issues. 8:99-106
BackgroundMucopolysaccharidosis (MPS) type I (MPS I), MPS type II (MPS II), and MPS type VI (MPS VI) are lysosomal storage disorders for which enzyme replacement therapy (ERT) is available.ObjectiveThe objective of this study was to evaluate the freq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef0671888e51a26146293605276ceb6
https://doi.org/10.1016/j.vhri.2015.08.002
https://doi.org/10.1016/j.vhri.2015.08.002
Autor:
Carolina Fischinger Moura de Souza, Caroline Paula Mescka, Carlos Eduardo Diaz Jacques, Maira Graeff Burin, Bruna Donida, Roberto Giugliani, Daiane Rodrigues, Carmen Regla Vargas, Fernanda Hendges de Bitencourt, Desirèe Padilha Marchetti
Publikováno v:
Biochimica et biophysica acta. 1862(9)
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disease caused by a deficient activity of iduronate-2-sulfatase, leading to abnormal accumulation of glycosaminoglycans (GAG). The main treatment for MPS II is enzyme replacement therapy (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f61e688bdf642ece79dd7997c0f9b1e
https://pubmed.ncbi.nlm.nih.gov/27251652
https://pubmed.ncbi.nlm.nih.gov/27251652