Oliveira J, Ferreira S. Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations. Appl Clin Genet. 2019;12:35-50 pubmed publisher
Ferreira S, Ortiz A, Germain D, Viana Baptista M, Caldeira Gomes A, Campreciós M, et al. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. Mol Genet Metab. 2015;114:248-58 pubmed publisher
..The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for "rare" condition. ..
Ferreira S, Reguenga C, Oliveira J. The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific. JIMD Rep. 2015;23:27-34 pubmed publisher
Ferreira S, Auray Blais C, Boutin M, Lavoie P, Nunes J, Martins E, et al. Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma. Clin Chim Acta. 2015;447:96-104 pubmed publisher
..The possibility that urinary Gb3 is a specific marker of kidney involvement in FD deserves further study. ..