Rivera I - Search Results

1

Evaluation of Mitochondrial Function on Pyruvate Dehydrogenase Complex Deficient Patient-derived Cell Lines.

Pavlú-Pereira H, Florindo C, Carvalho F, Tavares de Almeida I, Vicente J, Morais V, Rivera I. Pavlú-Pereira H, et al. Among authors: rivera i. Endocr Metab Immune Disord Drug Targets. 2023 Oct 11. doi: 10.2174/0118715303280072231004082458. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37861030

2

A single HPLC system for the evaluation of purine and pyrimidine metabolites in body fluids.

Rivera IA, Tavares de Almeida I, Silveira C. Rivera IA, et al. Adv Exp Med Biol. 1991;309B:11-4. doi: 10.1007/978-1-4615-7703-4_3. Adv Exp Med Biol. 1991. PMID: 1781353 No abstract available.

3

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I, Lechner MC. Rivera I, et al. J Med Genet. 1998 Apr;35(4):301-4. doi: 10.1136/jmg.35.4.301. J Med Genet. 1998. PMID: 9598724 Free PMC article.

4

Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease.

Castro R, Rivera I, Struys EA, Jansen EE, Ravasco P, Camilo ME, Blom HJ, Jakobs C, Tavares de Almeida I. Castro R, et al. Among authors: rivera i. Clin Chem. 2003 Aug;49(8):1292-6. doi: 10.1373/49.8.1292. Clin Chem. 2003. PMID: 12881445

5

Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview.

Castro R, Rivera I, Blom HJ, Jakobs C, Tavares de Almeida I. Castro R, et al. Among authors: rivera i. J Inherit Metab Dis. 2006 Feb;29(1):3-20. doi: 10.1007/s10545-006-0106-5. J Inherit Metab Dis. 2006. PMID: 16601863 Review.

6

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.

João Silva M, Pinheiro A, Eusébio F, Gaspar A, Tavares de Almeida I, Rivera I. João Silva M, et al. Among authors: rivera i. Eur J Pediatr. 2009 Jan;168(1):17-22. doi: 10.1007/s00431-008-0700-7. Epub 2008 Apr 9. Eur J Pediatr. 2009. PMID: 18398624

7

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.

Rivera I, Mendes D, Afonso Â, Barroso M, Ramos R, Janeiro P, Oliveira A, Gaspar A, Tavares de Almeida I. Rivera I, et al. Mol Genet Metab. 2011;104 Suppl:S86-92. doi: 10.1016/j.ymgme.2011.07.026. Epub 2011 Jul 31. Mol Genet Metab. 2011. PMID: 21871829

8

Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis.

Pinheiro A, Silva MJ, Graça I, Silva J, Sá R, Sousa M, Barros A, Tavares de Almeida I, Rivera I. Pinheiro A, et al. Among authors: rivera i. Gene. 2012 Sep 10;506(1):173-8. doi: 10.1016/j.gene.2012.06.068. Epub 2012 Jun 29. Gene. 2012. PMID: 22750801

9

Protein arginine methylation is more prone to inhibition by S-adenosylhomocysteine than DNA methylation in vascular endothelial cells.

Esse R, Rocha MS, Barroso M, Florindo C, Teerlink T, Kok RM, Smulders YM, Rivera I, Leandro P, Koolwijk P, Castro R, Blom HJ, de Almeida IT. Esse R, et al. Among authors: rivera i. PLoS One. 2013;8(2):e55483. doi: 10.1371/journal.pone.0055483. Epub 2013 Feb 8. PLoS One. 2013. PMID: 23408989 Free PMC article.

10

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

Coelho AI, Ramos R, Gaspar A, Costa C, Oliveira A, Diogo L, Garcia P, Paiva S, Martins E, Teles EL, Rodrigues E, Cardoso MT, Ferreira E, Sequeira S, Leite M, Silva MJ, de Almeida IT, Vicente JB, Rivera I. Coelho AI, et al. Among authors: rivera i. J Inherit Metab Dis. 2014 Jan;37(1):43-52. doi: 10.1007/s10545-013-9623-1. Epub 2013 Jun 8. J Inherit Metab Dis. 2014. PMID: 23749220

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