Associated Papers
Incidental Finding of Severe Hypertriglyceridaemia and Diagnosis of Familial Chylomicronaemia Syndrome in a Family.
Thadchanamoorthy V et al.
Journal of Paediatrics and Child Health, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
39858602 (PubMed )
Supplement: genes-16-00055-s001.zip › genes-3401157-supplementary.pdf
Homozygous LPL and GPIHBP1 variants causing familial chylomicronaemia syndrome in Sri Lankan children.
Kiyamudeen F et al.
Pathology, 2024
Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection.
Thowfeek Zeenath Thaneefa M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
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
Clinical and functional studies of two novel variants in the LPL gene in subjects with severe hypertriglyceridemia.
Plengpanich W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Rare LPL gene missense mutation in an infant with hypertriglyceridemia.
Qin YY et al.
Journal of Clinical Laboratory Analysis, 2018
Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.
Vidanapathirana DM et al.
Global Pediatric Health, 2017
Implementation of genomic medicine in Sri Lanka: Initial experience and challenges.
Sirisena ND et al.
Applied & Translational Genomics, 2016
Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach.
Khovidhunkit W et al.
Journal of Clinical Lipidology, 0
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