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Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity

Introduction Biallelic pathogenic variants in the LPL gene are associated with familial lipoprotein lipase (LPL) deficiency. Homozygotes exhibit very severe hypertriglyceridemia (HTG) already in childhood, with phenotypic features such as pancreatitis, abdominal pain and xanthomata. Recent studies s...

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Autors principals: Dominika Szczęśniak, Małgorzata Bednarska-Makaruk, Olga Drgas, Karolina Kowalczyk, Magdalena M. Kacprzak, Paweł Aleksandrowicz, Lidia Kotuła, Magdalena Mroczek
Format: Artigo
Idioma:Inglês
Publicat: Termedia Publishing House 2025-06-01
Col·lecció:Archives of Medical Science
Matèries:
lipoprotein lipase
hypertriglyceridemia
co-dominance
familial chylomicronemia syndrome
autosomal dominant
Accés en línia:https://www.archivesofmedicalscience.com/Lipoprotein-lipase-deficiency-heterozygotes-match-homozygotes-in-severity,201448,0,2.html
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