Articles with "deletion lmf1" as a keyword



Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia.

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Published in 2020 at "Journal of clinical lipidology"

DOI: 10.1016/j.jacl.2020.09.004

Abstract: Severe hypertriglyceridemia (HTG), characterized by triglycerides (TG) permanently over 10 mmol/L, may correspond to familial chylomicronemia syndrome (FCS), a rare disorder. However, hypertriglyceridemic patients more often present multifactorial chylomicronemia syndrome (MCS), characterized by highly variable TG.… read more here.

Keywords: severe hypertriglyceridemia; intermittent severe; lmf1 gene; deletion ... See more keywords