Associated Papers
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.
Heath O et al.
Jimd Reports, 2024
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
Li XY et al.
Lipids in Health and Disease, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.
D'Erasmo L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
31619059 (PubMed )
Supplement: atvb_atvb-2019-313401d_supp1.pdf
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
Rabacchi C et al.
Atherosclerosis, 2015
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
Rodrigues R et al.
Journal of Clinical Lipidology, 0
Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.
Hegele RA et al.
Journal of Clinical Lipidology, 0
Lomitapide-induced fatty liver is a reversible condition: Evidence from a case of familial chylomicronemia syndrome.
Tramontano D et al.
Journal of Clinical Lipidology, 0
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