Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria - Case report.

Autor: Gregoric N; Faculty of Medicine, University of Ljubljana, Slovenia.; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, Slovenia., Tara A; Faculty of Medicine, University of Ljubljana, Slovenia., Kastelic R; Faculty of Medicine, University of Ljubljana, Slovenia., Sikonja J; Faculty of Medicine, University of Ljubljana, Slovenia.; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, Slovenia., Peklaj K; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, Slovenia., Mesojedec M; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, Slovenia., Kopac P; Faculty of Medicine, University of Ljubljana, Slovenia.; University Clinic of Respiratory and Allergic Diseases Golnik, Slovenia., Janez A; Faculty of Medicine, University of Ljubljana, Slovenia.; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, Slovenia.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Jul 01; Vol. 40, pp. 101115. Date of Electronic Publication: 2024 Jul 01 (Print Publication: 2024).

Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.

Autor: Ain Q; Translational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.; Directorate of Research, Shifa Tameer-e-Millat University, Islamabad, Pakistan., Cevc M; Division of Medicine, Centre for Preventive Cardiology, University Medical Centre Ljubljana, Ljubljana, Slovenia., Marusic T; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Sikonja J; Department of Endocrinology, Diabetes and Metabolic Diseases, Division of Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Sadiq F; Directorate of Research, Shifa Tameer-e-Millat University, Islamabad, Pakistan., Sustar U; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Mlinaric M; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Kovac J; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Batool H; Department of Clinical Chemistry and Immunology, Chughtai Institute of Pathology, Lahore, Pakistan., Khan MI; Directorate of Research, Shifa Tameer-e-Millat University, Islamabad, Pakistan.; Department of Vascular Surgery, Shifa International Hospital, Islamabad, Pakistan., Trebusak Podkrajsek K; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Bizjan BJ; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Battelino T; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Fras Z; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Ajmal M; Translational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan., Groselj U; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jun 07; Vol. 15, pp. 1387419. Date of Electronic Publication: 2024 Jun 07 (Print Publication: 2024).

Child-parent cascade screening for familial hypercholesterolaemia in Slovenia

Autor: Šikonja, J., Mlinarič, M., Šuštar, U., Jenko Bizjan, B., Kovač, J., Podkrajšek, K. Trebušak, Battelino, T., Groselj, U.

Publikováno v: In Atherosclerosis August 2022 355

Statin therapy is not associated with insulin resistance in children and adolescents with familial hypercholesterolaemia

Autor: Groselj, U., Šikonja, J., Mlinarič, M., Kotnik, P., Battelino, T., Knowles, J.W.

Publikováno v: In Atherosclerosis August 2022 355

Insulin Metabolism in Polycystic Ovary Syndrome: Secretion, Signaling, and Clearance.

Autor: Herman R; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Department of Internal Medicine, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Sikonja J; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Department of Internal Medicine, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Jensterle M; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Department of Internal Medicine, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Janez A; Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Department of Internal Medicine, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Dolzan V; Pharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 05; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 05.