OAR@UM Collection:https://www.um.edu.mt/library/oar/handle/123456789/8152026-04-18T15:54:56Z2026-04-18T15:54:56ZVariants effecting inflammatory expression profiles identified by a novel biological pathway approachAttard, RitienneCassar, KarenFarrugia, RosienneBezzina Wettinger, Stephaniehttps://www.um.edu.mt/library/oar/handle/123456789/1457392026-04-17T13:55:01Z2016-01-01T00:00:00ZTitle: 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.2016-01-01T00:00:00ZDihydropteridine reductase deficiency accounts for all phenylketonuria in the Maltese populationFarrugia, RosienneDianzani, I.Attard Montalto, S.Felice, A. E.https://www.um.edu.mt/library/oar/handle/123456789/1456862026-04-16T12:48:01Z2000-01-01T00:00:00ZTitle: 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.2000-01-01T00:00:00ZThe preanalytical phase starts before blood collectionAttard, RitienneFarrugia, RosienneBezzina Wettinger, Stephaniehttps://www.um.edu.mt/library/oar/handle/123456789/1456402026-04-16T05:51:39Z2013-01-01T00:00:00ZTitle: 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.2013-01-01T00:00:00ZThe use of high throughput sequencing for the identification of variants contributing to autosomal dominant polycystic kidney disease in the Maltese populationCini Masini, MariaBorg Carbott, FrancescaAttard, RitiennePleven, AdrianCassar, KarenCallus, Roberta A.Borg Cauchi, AngelaSaid Conti, ValerieBezzina Wettinger, StephanieFarrugia, Rosiennehttps://www.um.edu.mt/library/oar/handle/123456789/1456392026-04-15T14:07:33Z2022-01-01T00:00:00ZTitle: 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.2022-01-01T00:00:00Z