Isabel T. De Almeida
Lisbon, Portugal
Last Updated: 09/26/2026
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Found 11 publications
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Journal: Orphanet journal of rare diseases
Published: January 18, 2018
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Journal: Journal of inherited metabolic disease
Published: May 23, 2016
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.
Journal: JIMD reports
Published: October 30, 2014
Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression.
Journal: The Journal of biological chemistry
Published: April 11, 2014
Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.
Journal: Journal of inherited metabolic disease
Published: June 28, 2013
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Journal: Journal of inherited metabolic disease
Published: March 07, 2013
Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.
Journal: Biochimica et biophysica acta
Published: October 17, 2012
Protein arginine methylation is more prone to inhibition by S-adenosylhomocysteine than DNA methylation in vascular endothelial cells.
Journal: PloS one
Published: October 01, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026