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Internal Medicine, ISSN 0918-2918, 2019
A 40-year-old Japanese man presented with child-onset hypertriglyceridemia recently complicated by diabetes mellitus. The patient's diabetes mellitus was... 
lipoprotein lipase | chylomicronemia | triglycerides
Journal Article
CLEVELAND CLINIC JOURNAL OF MEDICINE, ISSN 0891-1150, 09/2019, Volume 86, Issue 9, pp. 575 - 576
Journal Article
Journal of Clinical Lipidology, ISSN 1933-2874, 01/2019, Volume 13, Issue 1, pp. 62 - 69
Autoantibodies against glycosylphosphatidylinositol-anchored high-density lipoprotein–binding protein 1 (GPIHBP1) cause chylomicronemia by blocking the ability... 
Chylomicronemia | Autoantibodies | Hypertriglyceridemia | Interferon β1a | GPIHBP1 | interferon β1a | hypertriglyceridemia | autoantibodies | chylomicronemia
Journal Article
Annals of Pediatric Endocrinology & Metabolism, ISSN 2287-1012, 03/2017, Volume 22, Issue 1, pp. 68 - 71
Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular... 
Chylomicronemia | GPIHBP1 | Plasmapheresis
Journal Article
Expert Review of Cardiovascular Therapy, ISSN 1477-9072, 11/2017, Volume 15, Issue 11, pp. 879 - 887
Background: Familial chylomicronemia syndrome (FCS) is a rare, inherited lipid disorder characterized by high levels of plasma triglycerides and chylomicrons,... 
chylomicronemia | familial chylomicronemia syndrome | FCS | lipoprotein lipase deficiency | hypertriglyceridemia | Burden of disease | quality of life | LPLD
Journal Article
Journal of Clinical Lipidology, ISSN 1933-2874, 07/2018, Volume 12, Issue 4, pp. 898 - 907.e2
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia.... 
Burden of illness | Acute pancreatitis | Hypertriglyceridemia | Pancreatitis | Abdominal pain | Chylomicronemia | Hyperlipoproteinemia | Lipoprotein lipase deficiency | Familial chylomicronemia syndrome | Quality of life | DIAGNOSIS | PHARMACOLOGY & PHARMACY
Journal Article
Human Gene Therapy, ISSN 1043-0342, 11/2016, Volume 27, Issue 11, pp. 916 - 925
Journal Article
Journal Article
Expert Review of Cardiovascular Therapy, ISSN 1477-9072, 07/2018, Volume 16, Issue 7, pp. 537 - 546
Background: Volanesorsen, an investigational inhibitor of apoC-III synthesis, significantly reduced triglyceride levels in clinical trials in patients with... 
volanesorsen | familial chylomicronemia syndrome | hypertriglyceridemia | Burden of disease | survey | type 1 hyperlipoproteinemia | quality of life
Journal Article
CLINICA CHIMICA ACTA, ISSN 0009-8981, 01/2015, Volume 438, pp. 148 - 153
Backgrounds: Familial apolipoprotein (apo) C-II deficiency is a very rare inherited disorder characterized by chylomicronemia. Since the discovery in 1978,... 
Apolipoprotein C-II | DONOR SPLICE-SITE | Homologous recombination | Chylomicronemia | IDENTIFICATION | LIPOPROTEIN-LIPASE | Large deletion | HAMBURG | Hypertriglyceridemia | CII GENE | PATIENT | Alu repetitive element | MEDICAL LABORATORY TECHNOLOGY | FAMILIAL CHYLOMICRONEMIA SYNDROME | MOLECULAR-BASIS | NONSENSE MUTATION
Journal Article
Journal of Clinical Lipidology, ISSN 1933-2874, 03/2018, Volume 12, Issue 2, pp. 305 - 310
Journal Article
Atherosclerosis, ISSN 0021-9150, 2016, Volume 262, pp. 146 - 153
Journal Article