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).

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Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.

Autor: Marusic T; University Children's Hospital, University Medical Center, Ljubljana, Slovenia., Sustar U; University Children's Hospital, University Medical Center, Ljubljana, Slovenia., Sadiq F; Shifa Tameer-e-Millat University, Islamabad, Pakistan., Kotori V; Department of Endocrinology, Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Kosovo., Mlinaric M; University Children's Hospital, University Medical Center, Ljubljana, Slovenia., Kovac J; University Children's Hospital, University Medical Center, Ljubljana, Slovenia., Shafi S; Department of Anatomy, Shifa Tameer-e-Millat University, Islamabad, Pakistan., Khan I; Shifa Tameer-e-Millat University, Islamabad, Pakistan.; Department of Vascular Surgery, Shifa International Hospital, Islamabad, Pakistan., Cevc M; Division of Medicine, Centre for Preventive Cardiology, University Medical Centre Ljubljana, Ljubljana, Slovenia., Trebusak Podkrajsek K; University Children's Hospital, University Medical Center, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Battelino T; University Children's Hospital, University Medical Center, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Groselj U; University Children's Hospital, University Medical Center, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Publikováno v: Frontiers in genetics [Front Genet] 2020 Sep 11; Vol. 11, pp. 572176. Date of Electronic Publication: 2020 Sep 11 (Print Publication: 2020).

Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa.

Autor: Marusic T; University Children's Hospital, University Medical Center Ljubljana, Bohoričeva ulica 20, Ljubljana, Slovenia., Zerjav Tansek M; University Children's Hospital, University Medical Center Ljubljana, Bohoričeva ulica 20, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia., Sirca Campa A; University Children's Hospital, University Medical Center Ljubljana, Bohoričeva ulica 20, Ljubljana, Slovenia., Mezek A; University Children's Hospital, University Medical Center Ljubljana, Bohoričeva ulica 20, Ljubljana, Slovenia., Berden P; Clinical Institute of Radiology, University Medical Center Ljubljana, Zaloška cesta 7, 1000 Ljubljana, Slovenia., Battelino T; University Children's Hospital, University Medical Center Ljubljana, Bohoričeva ulica 20, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia., Groselj U; University Children's Hospital, University Medical Center Ljubljana, Bohoričeva ulica 20, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Jul 16; Vol. 24, pp. 100628. Date of Electronic Publication: 2020 Jul 16 (Print Publication: 2020).

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