Results 41 to 50 of about 6,623 (164)

A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation

罕见病研究, 2023
Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely ...
CHEN Peipei, TIAN Zhuang, CHEN Wei, MA Mingsheng, LIU Xin, QIN Yan, XU Haifeng, ZHU Zhijun, ZHANG Shuyang   +8 more
doaj   +1 more source

Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype

Molecular Genetics and Metabolism Reports
Background: Familial hypercholesterolemia (FH) results in elevated LDL cholesterol, contributing to atherosclerosis and early-onset cardiovascular disease.
Mai Thi Thanh Do, Dung Chi Vu, Mai Thi Chi Tran, Thao Phuong Bui, Ngoc Thi Bich Can, Khanh Ngoc Nguyen   +5 more
doaj   +1 more source

Similar content of phospholipids and gangliosides in normal and homozygous familial hypercholesterolemia fibroblasts.

Journal of Lipid Research, 1978
The cellular content of total and individual phospholipids and gangliosides was measured in fibroblasts cultured from four normal subjects, three patients with lysosomal lipid storage diseases, and two subjects with homozygous familial ...
P H Fishman, R M Bradley, M S Brown, J R Faust, J L Goldstein   +4 more
doaj   +1 more source

Therapeutic options for homozygous familial hypercholesterolemia: the role of Lomitapide

, 2020
Lomitapide (Juxtapid® in US and Lojuxta® in Europe) is the first developed inhibitor of the microsomal triglyceride transfer protein (MTP) approved as a novel drug for the management of homozygous familial hypercholesterolemia (HoFH).
Noto, Davide, Averna, Maurizio, Giammanco, Antonina, Cefalù, Angelo B   +3 more
core   +1 more source

Homozygous familial hypercholesterolemia with an update on cholesterol management

, 2020
Familial hypercholesterolemia (FH) is an autosomal dominant condition that increases the risk of premature cardiovascular disease. Despite advances in treatment, it remains under detected and under treated.
Velvet, Anju J J, Motwani, Manish, Soran, Handrean, Daniels, Matthew J, Clarke, Bernard, Ordoubadi, Farzin F   +5 more
core   +1 more source

Safety and Effectiveness of Low‐Density Lipoprotein Cholesterol–Lowering Therapy With Evolocumab for Familial Hypercholesterolemia/Hypercholesterolemia in Japan: A Real‐World, Postmarketing, Single‐Arm Study

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Evolocumab is the first monoclonal antibody against proprotein convertase subtilisin/kexin type 9 approved in Japan for familial hypercholesterolemia (FH) and hypercholesterolemia; however, data on its safety and effectiveness in the real ...
Koutaro Yokote, Junya Ako, Kazuo Kitagawa, Nobuhiro Osada, Feng Sheng, Masae Sonoda, Tamio Teramoto   +6 more
doaj   +1 more source

Homozygous familial hypercholesterolemia: case report of a rare cause of dyslipidemia Homozygotyczna rodzinna hipercholesterolemia. Opis przypadku dotyczący rzadkich przyczyn dyslipidemii [PDF]

Pediatric Endocrinology, Diabetes and Metabolism, 2011
A 4-year-old boy was evaluated for severe hypercholesterolemia (cholesterol: 831 mg/dL) and disseminated xanthomas. Both parents had hypercholesterolemia: mother (cholesterol: 308 mg/dL) and father (cholesterol: 281 mg/dL). There was no family history of
Cresio Alves, Zilda Braid
doaj  

New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia

, 2022
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified ...
Schiavo A., Calabro P., D'Erasmo L., Cesaro A., Moscarella E., Vergara A., Akioyamen L., Averna M., Arca M., Calabrò Paolo, Fimiani F., Fimiani Fabio, Gragnano F.   +12 more
core   +1 more source

Short-term evolocumab-induced tendon xanthomas regression in an elderly patient with homozygous familial hypercholesterolemia [PDF]

, 2023
Homozygous Familial Hypercholesterolemia (HoFH) is a rare inherited disorder affecting 1 in 160,000 to 1 in 300,000 individuals and resulting in extremely elevated low-densitym lipoprotein cholesterol (LDL-C) levels and premature atherosclerotic ...
Borghi C., Bragagni A, Fogacci F, Cicero AFG   +3 more
core   +1 more source

Key Points Interpretation of Chinese Expert Consensus on Early Screening and Management of Homozygous Familial Hypercholesterolemia (2024) [PDF]

Zhongguo quanke yixue
Familial hypercholesterolemia (FH) is a severe inherited metabolic disorder. Early diagnosis and early treatment can greatly improve the prognosis of patients, but the recognition and management of homozygous familial hypercholesterolemia (HoFH) remain ...
WU Hui, WANG Luya, LI Jialu, ZHANG Jun
doaj   +1 more source