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TITLE: Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients  Full Text
AUTHORS: Mendes, MIS; Colaco, HG; Smith, DEC; Ramos, RJJF; Pop, A; van Dooren, SJM; Tavares de Almeida, I; Kluijtmans, LAJ; Janssen, MCH; Rivera, I ; Salomons, GS; Leandro, P ; Blom, HJ;
PUBLISHED: 2013, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 37, ISSUE: 2
INDEXED IN: Scopus CrossRef
3
TITLE: Asymmetric dimethylarginine in adults with cystathionine beta-synthase deficiency  Full Text
AUTHORS: Monica S Rocha; Tom Teerlink; Mirian C H Janssen; Leo A J Kluijtmans; Yvo Smulders; Cornelis Jakobs; Isabel Tavares de Almeida; Isabel Rivera ; Rita Castro ; Henk J Blom;
PUBLISHED: 2012, SOURCE: ATHEROSCLEROSIS, VOLUME: 222, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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TITLE: Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells  Full Text
AUTHORS: Barroso, M; Rocha, MS; Esse, R; Goncalves, I; Gomes, AQ ; Teerlink, T; Jakobs, C; Blom, HJ; Loscalzo, J; Rivera, I ; Tavares de Almeida, IT ; Castro, R ;
PUBLISHED: 2012, SOURCE: AMINO ACIDS, VOLUME: 42, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: Demethylation of the Coding Region Triggers the Activation of the Human Testis-Specific PDHA2 Gene in Somatic Tissues  Full Text
AUTHORS: Pinheiro, A; Nunes, MJ; Milagre, I; Rodrigues, E ; Silva, MJ; de Almeida, IT ; Rivera, I ;
PUBLISHED: 2012, SOURCE: PLOS ONE, VOLUME: 7, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients  Full Text
AUTHORS: Isabel Rivera ; Dina Mendes; Angela Afonso; Madalena Barroso; Ruben Ramos; Patricia Janeiro; Anabela Oliveira; Ana Gaspar; Isabel Tavares de Almeida;
PUBLISHED: 2011, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 104, ISSUE: SUPPL.
INDEXED IN: Scopus WOS CrossRef
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TITLE: Chromatin-Modifying Agents Increase Transcription of CYP46A1, a Key Player in Brain Cholesterol Elimination
AUTHORS: Ines Milagre; Maria Joao Nunes; Miguel Moutinho; Isabel Rivera ; Andrea Fuso; Sigfrido Scarpa; Maria Joao Gama ; Elsa Rodrigues ;
PUBLISHED: 2010, SOURCE: JOURNAL OF ALZHEIMERS DISEASE, VOLUME: 22, ISSUE: 4
INDEXED IN: Scopus WOS
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TITLE: Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methods  Full Text
AUTHORS: Rocha, MS; Castro, R ; Rivera, I ; Kok, RM; Smulders, YM; Jakobs, C; de Almeida, IT ; Blom, HJ;
PUBLISHED: 2010, SOURCE: CLINICAL CHEMISTRY AND LABORATORY MEDICINE, VOLUME: 48, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
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TITLE: Human testis-specific PDHA2 gene: Methylation status of a CpG island in the open reading frame correlates with transcriptional activity  Full Text
AUTHORS: Ana Pinheiro; Ines Faustino; Maria Joao Silva; Joaquina Silva; Rosalia Sa ; Mario Sousa ; Alberto Barros ; Isabel Tavares de Almeida ; Isabel Rivera ;
PUBLISHED: 2010, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 99, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 10
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