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American Journal of Cardiology, 2021
Patients with homozygous familial hypercholesterolemia (HoFH) have a high risk for premature death. Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH.
Ruiying Zhang +13 more
semanticscholar +1 more source
Patients with homozygous familial hypercholesterolemia (HoFH) have a high risk for premature death. Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH.
Ruiying Zhang +13 more
semanticscholar +1 more source
Homozygous Familial Hypercholesterolemia
New England Journal of Medicine, 1975Patients with homozygous familial hypercholesterolemia fall into two groups: one responds to diet and drug therapy; the other does not. Fibroblasts from patients in each group were compared for low-density lipoprotein suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and low-density lipoprotein binding.
J L, Breslow +4 more
openaire +2 more sources
Homozygous familial hypercholesterolemia.
The Malaysian journal of pathology, 2014We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L).
M K, Alicezah +7 more
openaire +1 more source
Evinacumab for Homozygous Familial Hypercholesterolemia
New England Journal of Medicine, 2021Frederick J, Raal +2 more
openaire +5 more sources
Characteristics of homozygous familial hypercholesterolemia in Spain
Atherosclerosis, 2016Genetic, Omics And In Silico Approaches.
Sánchez Hernández, Rosa M. +10 more
openaire +2 more sources
Plasma-Exchange Therapy of Homozygous Familial Hypercholesterolemia
New England Journal of Medicine, 1980FAMILIAL hypercholesterolemia is a common, dominantly inherited disease characterized by increases in plasma cholesterol and low-density lipoproteins (LDL), xanthomas, and premature atherosclerosis...
M E, King, J L, Breslow, R S, Lees
openaire +2 more sources
Homozygous Familial Hypercholesterolemia
Journal of Pediatric Endocrinology and Metabolism, 2009Suhil A, Choh +4 more
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Management of Homozygous Familial Hypercholesterolemia
2020Homozygous familial hypercholesterolemia (HoFH) is a devastating codominant autosomal disease mostly caused by loss off function variants affecting the LDL receptor gene (LDLR) and is characterized by extremely elevated plasma LDL-cholesterol (LDL-C), diffuse cutaneous and tendinous xanthomas, corneal arcus, and early diffuse atherosclerotic ...
openaire +1 more source

