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List of works by Isabel Tavares de Almeida

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

scientific article published in August 2003
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview

scientific article
5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine

scientific article published in April 2003
Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC.

scientific article published on 23 June 2005
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

scientific article published on 01 March 1999
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient

scientific article published on 10 July 2013
Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis

scientific article published on 23 October 2009
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines

scientific article published on 15 January 2013
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites.

scientific article
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

scientific article published in March 2005
Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia

scientific article published on 22 May 2013
Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism

scientific article
Glycerol increases the yield and activity of human phenylalanine hydroxylase mutant enzymes produced in a prokaryotic expression system.

scientific article published in June 2001
Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation

article
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling

scientific article published on 9 June 2010
Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency

scientific article
Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

scientific article
Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates. Evidence for a reverse carnitine cycle in mitochondria

scientific article published on 01 May 1998
Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase

scientific journal article
The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations

scientific article published on 6 February 2010
S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation

scientific article published on 23 October 2015
Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression

scientific article
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

scientific article published on 23 August 2013
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

scientific article published on 31 July 2011
Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds

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

scientific article published on 9 April 2008
Quantitative analysis of urinary acylglycines for the diagnosis of β-oxidation defects using GC-NCI-MS

scientific article published on 01 January 2000
Quantification of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent 1,N(6)-etheno derivatives: an adaptation of previously described methodology

scientific article published in July 2002
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

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

scientific article
Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes

scientific article
Aromatic amino acid metabolites as potential protein binding inhibitors in human uremic plasma

scientific article published in July 1985
Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS.

scientific article published in November 2001
Evaluation of neurobehavioral and neuroinflammatory end-points in the post-exposure period in rats sub-acutely exposed to manganese

scientific article published on September 20, 2013
3-, 6- and 7-Hydroxyoctanoic Acids are Metabolites of Medium-Chain Triglycerides and Excreted in Urine as Glucuronides

scientific article published on 01 June 1996
Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal

scientific article published in May 2009
Functional correction by antisense therapy of a splicing mutation in the GALT gene

scientific article published on 23 July 2014
Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methods

scientific article published on 28 October 2010
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway

scientific article
Valproyl‐CoA inhibits the activity of ATP‐ and GTP‐dependent succinate:CoA ligases

scientific article published on October 24, 2013
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

scientific article published in March 2000
Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency

scientific article published on 24 March 2012
Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation

scientific article published in January 1995
Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity

scientific article published on 16 November 2009
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C

scientific article published on 12 October 2015
Valproate induces in vitro accumulation of long-chain fatty acylcarnitines

scientific article
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

scientific article
Polyol additives modulate the in vitro stability and activity of recombinant human phenylalanine hydroxylase

scientific article published on 25 November 2009
Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis

scientific article published on 29 June 2012
Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia

scientific article published on 23 October 2009

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