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

IntroductionHypertriglyceridemia (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 with...

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Autors principals:	Quratul Ain, Matija Cevc, Tatiana Marusic, Jaka Sikonja, Fouzia Sadiq, Ursa Sustar, Matej Mlinaric, Jernej Kovac, Hijab Batool, Mohammad Iqbal Khan, Katarina Trebusak Podkrajsek, Barbara Jenko Bizjan, Tadej Battelino, Zlatko Fras, Muhammad Ajmal, Urh Groselj
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2024-06-01
Col·lecció:	Frontiers in Endocrinology
Matèries:	hypertriglyceridemia lipoprotein lipase LPL lipoprotein lipase deficiency pancreatitis case series
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fendo.2024.1387419/full
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