Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants

Rare monogenic hyperchylomicronemia is caused by loss-of-function mutations in genes involved in the catabolism of triglyceride-rich lipoproteins, including the lipoprotein lipase gene, LPL. Clinical hallmarks of this condition are eruptive xanthomas, recurrent pancreatitis and abdominal pain. Patie...

Descripción completa

Detalles Bibliográficos
Autores principales: Kassner, Ursula, Salewsky, Bastian, Wühle-Demuth, Marion, Szijarto, Istvan Andras, Grenkowitz, Thomas, Binner, Priska, März, Winfried, Steinhagen-Thiessen, Elisabeth, Demuth, Ilja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538214/
https://www.ncbi.nlm.nih.gov/pubmed/25585702
http://dx.doi.org/10.1038/ejhg.2014.295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538214/
https://www.ncbi.nlm.nih.gov/pubmed/25585702
http://dx.doi.org/10.1038/ejhg.2014.295

Ejemplares similares