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Clinical utility gene card for: hyperlipoproteinemia, TYPE II. [PDF]
Eur J Hum Genet, 2014 Kassner U +5 more
europepmc +7 more sources
Familial Hyperlipoproteinemia Type II
Nishi Nihon Hifuka, 1974 両側肩甲部, 肘頭, 臀部, 下腿屈側, 膝蓋部, 第I, IV指間には扁平黄色腫, 両側手指基節部, 右アキレス腱部に結節性黄色腫を, 両手掌, 指腹部には腱に一致して縦に走る橙黄色の線条がみられ, その母, 兄, 姉にも扁平あるいは結節性黄色腫と高コレステロール血症がみられたfamilial hyperlipoproteinemia type IIと思われる21才, 女性例を報告した。なお血清脂質は, 総コレステロール484mg/dl, β-リポ蛋白1760mg/dl, 燐脂質450mg/dl, 遊離脂肪酸0.453mEq/l, トリグリセライト109mg/dlであつた。
MORISHITA, Reiko, TASHIRO, Masaaki
openaire +2 more sources
The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia [PDF]
Journal of Clinical Investigation, 1972 The metabolism of low density lipoprotein (LDL, beta lipoprotein) was studied in 10 normal individuals and 10 patients with familial type II hyperlipoproteinemia using purified radioiodinated LDL. Over 97% of the label was bound to the protein moiety of LDL and therefore the turnover data reflect the fate and distribution of LDL-apoprotein.
T, Langer, W, Strober, R I, Levy
openaire +3 more sources
2022 Consensus Statement on the Management of Familial Hypercholesterolemia in Korea [PDF]
Journal of Lipid and Atherosclerosis, 2022 Familial hypercholesterolemia (FH) is the most common monogenic disorder. Due to the marked elevation of cardiovascular risk, the early detection, diagnosis, and proper management of this disorder are critical.
Chan Joo Lee +7 more
doaj +2 more sources
Research in Cardiovascular Medicine, 2022 Background: Familial hypercholesterolemia (FH) is an inherited disorder characterized by significantly elevated levels of low-density lipoprotein (LDL) cholesterol and is usually diagnosed after the occurrence of major adverse cardiovascular event.
Edin Begic +17 more
doaj +1 more source
Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia [PDF]
Endocrinology and Metabolism, 2021 Patients with familial hypercholesterolemia (FH) are at high or very high risk for cardiovascular disease. Those with heterozygous FH (HeFH) often do not reach low-density lipoprotein cholesterol (LDL-C) targets with statin and ezetimibe therapy, and ...
Brian Tomlinson +3 more
doaj +1 more source
Individualized Treatment for Patients With Familial Hypercholesterolemia
Journal of Lipid and Atherosclerosis, 2022 Familial hypercholesterolemia (FH) is one of the most common and, therefore, important inherited disorders in preventive cardiology. This disease is mainly caused by a single pathogenic mutation in the low-density lipoprotein receptor or its associated ...
Hayato Tada +2 more
doaj +1 more source
Pseudohomozygous type II hyperlipoproteinemia [PDF]
Japanese journal of human genetics, 1982 A 12-month-old boy with clinical findings suggestive of homozygous familial hypercholesterolemia, who had no secondary causes of hypercholesterolemia, and whose parents had no lipid abnormalities, was reported. No abnormalities were noted in the low density lipoprotein (LDL) receptor activities of the fibroblasts from patient, parents and sibling.
K, Hamada +8 more
openaire +2 more sources
Eruptive Xanthomas Caused by Primary Type V Hyperlipoproteinemia
Internal medicine, 2021 A 39-year-old man (height, 170 cm; weight, 105 kg; body mass index, 36.3 kg/m) with dyslipidemia (no family history) and type II diabetes mellitus treated with 50 mg ipragliflozin, 1,500 mg metformin, and 0.2 mg pemafibrate was referred to our clinic. On
Yoshihiro Nakamura +3 more
semanticscholar +1 more source
Molecular diagnosis methods in familial hypercholesterolemia
Anatolian Journal of Cardiology, 2020 Familial hypercholesterolemia (FH) is considered the genetic cause of coronary heart disease and ischemic stroke. FH is mainly an autosomal codominant pattern-based disorder and is primarily determined by point mutations within the low-density ...
Valeriu Moldovan +2 more
doaj +1 more source