A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis
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 (LPL) gene, which lead to impaired fat metabolism. We...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Sungkyunkwan University School of Medi
2024-12-01
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| Col·lecció: | Precision and Future Medicine |
| Matèries: | |
| Accés en línia: | http://pfmjournal.org/upload/pdf/pfm-2024-00163.pdf |
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