Results 11 to 20 of about 286,443 (160)
Xanthoma tuberosum in homozygous familial hypercholesterolemia
Familial homozygous hypercholesterolemia is one of the high risk factors that can result in premature coronary arterial disease leading to severe morbidity and premature death in children and young adults. We describe a rare example of extensive xanthoma
Nagaraja Moorthy +3 more
doaj +2 more sources
Homozygous familial hypercholesterolemia associated with symmetric subcutaneous lipomatosis
Homozygous familial hypercholesterolemia is an autosomal dominant disorder of lipid metabolism, characterized by reduced clearance of low-density lipoprotein-cholesterol and a high risk of rapid development of cardiovascular diseases.
Noha Mohammed Dawoud +2 more
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Homozygous familial hypercholesterolemia with valvulopathy
Familial hypercholesterolemia (FH) is an autosomal codominant genetic disorder of lipid metabolism. The occurrence of its homozygous form is rare. This is a case of a young girl who presented with syncope and was found to have multiple tuberous xanthomas
Ashokan Nambiar +3 more
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Current Treatment Options in Homozygous Familial Hypercholesterolemia
Homozygous familial hypercholesterolemia (HoFH) is the rare form of familial hypercholesterolemia causing extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to atherosclerotic cardiovascular disease (ASCVD) in the first decades of
Meral Kayikcioglu, Lale Tokgozoglu
doaj +2 more sources
Background: Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality.
Filiz Ekici +2 more
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Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia [PDF]
These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age.
Frederick J. Raal +3 more
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Homozygous familial hypercholesterolemia: A rare case report
A 9-year-old male child presented with asymptomatic skin-colored-to-yellowish nodules over both the buttocks, feet, and over the right Achilles' tendon for 4 years.
Shashikant Malkud +3 more
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Spectrum of cardiovascular manifestations in homozygous familial hypercholesterolemia
Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature ...
Nitin Bajaj +3 more
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Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment [PDF]
Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life ...
V. К. Zafiraki +4 more
doaj +2 more sources
Background Homozygous familial hypercholesterolemia (HoFH), characterized by extremely elevated low‐density lipoprotein cholesterol (LDL‐C) due to severely impaired LDL‐C clearance from circulation, remains challenging to treat.
M. D. Reijman +15 more
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