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Št. zadetkov: 2
Cascade screening of a Pakistani consanguineous familial hypercholesterolemia cohort
Quratul Ain, Jaka Šikonja, Fouzia Sadiq, Saeed Shafi, Jan Kafol, Tevž Gorjanc, Urša Šuštar, Jernej Kovač, Mohammad Iqbal Khan, Muhammad Ajmal, Urh Grošelj, Urh Grošelj
Izvirni znanstveni članek
Oznake: cardiovascular disease;cascade screening;consanguineous;familial hypercholesterolemia;homozygous;
Background and aims: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, significantly increasing the risk of premature cardiac events and mortality. In Pakistan, despite the potential burden of FH, compreh ...
Leto: 2025 Vir: Medicinska fakulteta (UL MF)
Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan
Quratul Ain, Matija Cevc, Tatiana Marusic, Jaka Šikonja, Fouzia Sadiq, Urša Šuštar, Matej Mlinarič, Jernej Kovač, Hijab Batool, Mohammad Iqbal Khan, Katarina Trebušak Podkrajšek, Barbara Jenko, Tadej Battelino, Zlatko Fras, Urh Grošelj
Izvirni znanstveni članek
Oznake: LPL;case series;hypertriglyceridemia;lipoprotein lipase;lipoprotein lipase deficiency;pancreatitis;
Introduction: Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents wi ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 2
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