- A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis
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Nuwaylati DA, Daghistani H, Shaik NA, Awan ZA
- KMID: 2562867
- Precis Future Med.
- 2024 Dec;8(4):178-183.
- doi: 10.23838/pfm.2024.00163
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis, often manifesting in childhood. The condition results from variants in the lipoprotein lipase... -
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