A novel lipoprotein lipase mutation in familial chylomicronemia syndrome - two case reports

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Identification of two novel LMNA variants causing familial partial lipodystrophy2024
2. 2Comparison of metabolic and immunological profile of 2 types of familial partial lipodystrophy syndromes (PLIN1 and LMNA)2024
3. 3Familial partial lipodystrophy:genetic and clinical data from a greek referral center2024
4. 4Heterozygous type 1 familial hypercholesterolemia patient with a rare LDL receptor mutation and the efficacy of evolocumab in the management of consequent hyperlipidemia2024
5. 5Homozygous familial hypercholesterolemia with resistance to Inclisiran (siRNA PCSK9i) - a case report2024