https://www.um.edu.mt/library/oar/handle/123456789/814 2026-04-23T11:39:23Z https://www.um.edu.mt/library/oar/handle/123456789/145828 Title: Soluble P-selectin levels are higher in patients with NSTEMI vs STEMI Authors: Agius, C.; Attard, Ritienne; Dingli, Philip; Lisman, T.; Cassar, Karen; Doggen, C. J. M.; Bezzina Wettinger, Stephanie; Farrugia, Rosienne Abstract: P-selectin is stored in the α-granules of platelets and the Weibel-Palade bodies of endothelial cells. Upon activation, it is re distributed to the plasma membrane where it participates in binding to its receptor, P-selectin glycoprotein ligand-1, present on the surface of activated leukocytes. Soluble P-selectin (sP-sel) is a cleaved form detected in plasma and is a marker of platelet activation and endothelial dysfunction. 2017-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/145825 Title: Tetrahydrobiopterin deficiencies in the Maltese population Authors: Farrugia, Rosienne; Naudi, R.; Attard Montalto, S.; Parascandolo, Raymond; Scerri, Christian A.; Bartolo, C.; Felice, A. E. Abstract: A higher than usual frequency of hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiencies, specifically Dihydropteridine Reductase (DHPR) deficiency, is present in the Maltese population. Classical Phenylketonuria due to Phenylalanine Hydroxylase deficiency has not been identified to date. 2002-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/145739 Title: Variants effecting inflammatory expression profiles identified by a novel biological pathway approach Authors: Attard, Ritienne; Cassar, Karen; Farrugia, Rosienne; Bezzina Wettinger, Stephanie Abstract: Introduction: The genes involved in the generation of an inflammatory immune response are many. Approaches used to date have not yet unveiled the variants responsible for the generation of different inflammatory expression profiles. 2016-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/145686 Title: Dihydropteridine reductase deficiency accounts for all phenylketonuria in the Maltese population Authors: Farrugia, Rosienne; Dianzani, I.; Attard Montalto, S.; Felice, A. E. Abstract: Phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, generally with an occurrence of 1 in 1000 live births. Dihydropteridine reductase (QDPR) deficiency is a rare form of PKU found in 2% of hyperphenylalaninaemia patients. In the last five years 3 probands have been identified. All are under 4 years of age and are not in any way related. The aim of this study was to identify the causative mutation in the probands and their family members, and use the information obtained to investigate the occurrence of QDPR deficiency in the Maltese population. 2000-01-01T00:00:00Z