Results 31 to 40 of about 5,794 (166)

Familial hypercholesterolemia: A review

Annals of Pediatric Cardiology, 2014
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism resulting in elevated serum low-density lipoprotein (LDL) cholesterol levels leading to increased risk for premature cardiovascular diseases (CVDs).
Mithun J Varghese
doaj   +1 more source

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis

Indian Heart Journal, 2018
Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death.
Rajpal Prajapati, Vikas Agrawal
doaj   +1 more source

Apolipoprotein B metabolism in homozygous familial hypercholesterolemia.

Journal of Lipid Research, 1989
This report describes the metabolism of apolipoprotein B-containing lipoproteins in seven familial hypercholesterolemic (FH) homozygotes and compares the results to the values obtained from five healthy control subjects.
R W James, B Martin, D Pometta, J C Fruchart, P Duriez, P Puchois, J P Farriaux, A Tacquet, T Demant, R J Clegg   +9 more
doaj   +1 more source

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

Homozygous familial hypercholesterolemia: A rare case report

Indian Journal of Paediatric Dermatology, 2018
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, Sirisha Varala, Geeta Kiran Arakkal, Purnachandra Badabagni   +3 more
doaj   +1 more source

Co‐Design of Strategies to Support the Implementation of a Paediatric Risk‐Reduction Pathway for Familial Hypercholesterolaemia

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Objectives Familial hypercholesterolaemia (FH) affects 1 in 311 people. Left untreated, it elevates LDL‐cholesterol from early life and drives premature atherosclerotic cardiovascular disease. Despite paediatric guidelines for early lipid‐lowering, detection and management in Australia remain suboptimal.
Mitchell Sarkies, Shubha Srinivasan, Ari Horton, Jacquie Garton‐Smith, Gerald F. Watts, Christine Tawtel, Jenny Della‐Vedova, Kristen J. Nowak, Jing Pang, Andrew Martin   +9 more
wiley   +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

A Framework for Ethical and Clinical Governance Evaluation of Innovative Medicines in Children: A Mixed Methods Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim The aim of this project was to develop and implement a working definition and ethical framework for use of innovative medicine in contemporary Australian paediatric practice. Methods A mixed methods research methodology was undertaken using a Delphi process to establish a definition of innovative medicines in paediatric patients.
Sonya Stacey, Jamie Lam, Fiona Gregory, Shakira Wild, Steven McTaggart, Helen Irving   +5 more
wiley   +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

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, Volume 101, Issue 4, Page 1662-1682, August 2026.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source