Familial chylomicronemia syndrome: A comprehensive clinical and genetic approach
Abstract The familial chylomicronemia syndrome (FCS) is characterized by very high levels of circulating triglycerides. FCS is caused by lipoprotein lipase (LPL) deficiency resulting from homozygous or biallelic loss-of-function variants in the LPL or other related genes. Here, we report a case of s...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
SciELO
2023-08-01
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Series: | Journal of Inborn Errors of Metabolism and Screening |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100504&tlng=en |