https://www.um.edu.mt/library/oar/handle/123456789/815 Sat, 18 Apr 2026 07:49:08 GMT 2026-04-18T07:49:08Z 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. Fri, 01 Jan 2016 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/145739 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. Sat, 01 Jan 2000 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/145686 2000-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/145640 Title: The preanalytical phase starts before blood collection Authors: Attard, Ritienne; Farrugia, Rosienne; Bezzina Wettinger, Stephanie Abstract: Background: Large biological collections are be ing set up for biobanking, epidemiological studies and in the search of biomarkers. A number of vari ables could play an important role in determining levels of analytes in blood even before blood is collected and can result in contradictory outcomes of studies, particularly when levels are compared between groups of individuals. There is a lack of guidelines and standardised instructions that need to be followed prior to phlebotomy. Tue, 01 Jan 2013 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/145640 2013-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/145639 Title: The use of high throughput sequencing for the identification of variants contributing to autosomal dominant polycystic kidney disease in the Maltese population Authors: Cini Masini, Maria; Borg Carbott, Francesca; Attard, Ritienne; Pleven, Adrian; Cassar, Karen; Callus, Roberta A.; Borg Cauchi, Angela; Said Conti, Valerie; Bezzina Wettinger, Stephanie; Farrugia, Rosienne Abstract: Introduction: Autosomal dominant polycystic Kidney Disease (ADPKD) though rare, is the most common hereditary kidney disease. It is characterized by enlarged kidneys, bilateral formation and progressive expansion of renal cysts, as well as systemic manifestations from the progression of renal disease requiring renal replacement therapy or transplantation. Sat, 01 Jan 2022 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/145639 2022-01-01T00:00:00Z