Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Isabel, Tavares de Almeida"'
Autor:
Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotyp
Externí odkaz:
https://doaj.org/article/37f927c3888f4a17b355b563b8381907
Autor:
Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. E
Externí odkaz:
https://doaj.org/article/1e43991c7efe4b65b577dbeda655da5f
Autor:
Ana Pinheiro, Maria João Silva, Hana Pavlu-Pereira, Cristina Florindo, Madalena Barroso, Bárbara Marques, Hildeberto Correia, Anabela Oliveira, Ana Gaspar, Isabel Tavares de Almeida, Isabel Rivera
Publikováno v:
Data in Brief, Vol 9, Iss C, Pp 68-77 (2016)
This article presents a dataset proving the simultaneous presence of a 5′UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We
Externí odkaz:
https://doaj.org/article/fee7be74b25a414788e9722bafdb60e8
Autor:
Patrícia Lipari Pinto, Cristina Florindo, Patrícia Janeiro, Rita Loureiro Santos, Sandra Mexia, Hugo Rocha, Isabel Tavares de Almeida, Laura Vilarinho, Ana Gaspar
Publikováno v:
Nutrients; Volume 14; Issue 20; Pages: 4397
The early diagnosis of and intervention in vitamin B12 deficiency in exclusively breastfed infants by mothers with low vitamin B12 is crucial in preventing possible irreversible neurologic damage, megaloblastic anemia, and failure to thrive. We asses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900dfddab4f39860b959477c8f77a810
Autor:
Isabel Tavares de Almeida, A.F. Oliveira, Patrícia Janeiro, Cristina Florindo, Sílvia Sequeira, João B. Vicente, Ana Luísa Rodrigues, Hana Pavlu-Pereira, Maria João Silva, R. A. T. Gomes, Isabel Rivera, Ana Cristina Ferreira, Sofia Duarte, Anabela Bandeira, Esmeralda Martins, Daniel Gonçalves Gomes, Sérgia Soares
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe25ed0d30249c796e02cedf7bcd1a24
http://link.springer.com/article/10.1186/s13023-020-01586-3
http://link.springer.com/article/10.1186/s13023-020-01586-3
Publikováno v:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::759bbc7d78e7eae3d28e3840bbc27ca1
https://doi.org/10.1007/978-3-030-67727-5_4
https://doi.org/10.1007/978-3-030-67727-5_4
Autor:
Isabel Tavares de Almeida, Sandra Mexia, Teresa Almeida, Luís Rodrigues, Rita Jotta, Anabela Guerra, Patrícia Janeiro, Ana Luísa Rodrigues, José Matono, Ana Maria Minarelli Gaspar, Andreia Forno
Publikováno v:
Pediatric Oncall. 18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83f960007a01f42c6afcf3c3d6357b7c
https://doi.org/10.7199/ped.oncall.2021.50
https://doi.org/10.7199/ped.oncall.2021.50
Autor:
Ruben Esse, Monica S Rocha, Madalena Barroso, Cristina Florindo, Tom Teerlink, Robert M Kok, Yvo M Smulders, Isabel Rivera, Paula Leandro, Pieter Koolwijk, Rita Castro, Henk J Blom, Isabel Tavares de Almeida
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e55483 (2013)
Methyltransferases use S-adenosylmethionine (AdoMet) as methyl group donor, forming S-adenosylhomocysteine (AdoHcy) and methylated substrates, including DNA and proteins. AdoHcy inhibits most methyltransferases. Accumulation of intracellular AdoHcy s
Externí odkaz:
https://doaj.org/article/841a09fd4f574ec8993de1f3fe8d9e03
Autor:
Ruben Esse, Monica S. Rocha, Madalena Barroso, Cristina Florindo, Tom Teerlink, Robert M. Kok, Yvo M. Smulders, Isabel Rivera, Paula Leandro, Pieter Koolwijk, Rita Castro, Henk J. Blom, Isabel Tavares de Almeida
Publikováno v:
PLoS ONE, Vol 8, Iss 10 (2013)
Externí odkaz:
https://doaj.org/article/2926133dcba94c76aa6b440ca99c5df0
Autor:
Catarina S. Tomé, Diana Lousa, Paula Leandro, Isabel Rivera, Cristina Florindo, João B. Vicente, Hana Pavlu-Pereira, Isabel Tavares de Almeida, Maria João Silva
Publikováno v:
Biochimie. 183
Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate to acetyl-coenzyme A, hinging glycolysis and the tricarboxylic acid cycle. PDC deficiency, an inborn error of metabolism, has a broad phenotypic spectrum. Sympto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37bdb37b1e8c6715fd218c4940953dc4
https://pubmed.ncbi.nlm.nih.gov/33588022
https://pubmed.ncbi.nlm.nih.gov/33588022