Associated Papers
Homozygous LPL and GPIHBP1 variants causing familial chylomicronaemia syndrome in Sri Lankan children.
Kiyamudeen F et al.
Pathology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.
Sustar U et al.
Frontiers in Genetics, 2022
GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.
Beigneux AP et al.
Circulation Research, 2015
Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.
Plengpanich W et al.
The Journal of Biological Chemistry, 2014
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.
Buonuomo PS et al.
Journal of Clinical Lipidology, 0
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.
Ariza MJ et al.
Journal of Clinical Lipidology, 0
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.
Rabacchi C et al.
Journal of Clinical Lipidology, 0
Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.
Patni N et al.
Journal of Clinical Lipidology, 0
Inherited Lipid Disorders in Children: Experience from a Tertiary Care Centre.
Syal S et al.
Indian Journal of Endocrinology and Metabolism, 0
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