Rivera I - Search Results

1

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

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

Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity.

Pinheiro A, Faustino I, Silva MJ, Silva J, Sá R, Sousa M, Barros A, de Almeida IT, Rivera I. Pinheiro A, et al. Among authors: rivera i. Mol Genet Metab. 2010 Apr;99(4):425-30. doi: 10.1016/j.ymgme.2009.11.002. Epub 2009 Nov 16. Mol Genet Metab. 2010. PMID: 20005141

8

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

9

Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues.

Pinheiro A, Nunes MJ, Milagre I, Rodrigues E, Silva MJ, de Almeida IT, Rivera I. Pinheiro A, et al. Among authors: rivera i. PLoS One. 2012;7(6):e38076. doi: 10.1371/journal.pone.0038076. Epub 2012 Jun 1. PLoS One. 2012. PMID: 22675509 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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