Results 61 to 70 of about 286,443 (160)

Toward Individualized Atherosclerosis Therapy: Clinical Endotypes, Programmable Therapeutics, and Delivery Constraints

Medicine Bulletin, Volume 2, Issue 4, Page 388-405, September 2026.
ABSTRACT Atherosclerosis remains the dominant substrate of atherosclerotic cardiovascular disease (ASCVD), yet recurrent events persist even when LDL cholesterol is driven to guideline targets, underscoring residual risk as a central limitation of contemporary prevention.
Yundong Peng, Rui Li, Huan Li, Jun Zhou, Xuanshi Liu, Guilherme Valente, Tataiana de Campos Melo, Sifan Chen, Lei Gu   +8 more
wiley   +1 more source

Pregnancy in a Woman with Homozygous Familial Hypercholesterolemia Not on Low-Density Lipoprotein Apheresis

American Journal of Perinatology Reports, 2012
Pregnancy in women with homozygous familial hypercholesterolemia (FH) has been rarely reported and might pose risks on the mother and her fetus. Although most reported cases remained on low-density lipoprotein (LDL) apheresis, there are no clear ...
Akl C. Fahed, Anwar H. Nassar
doaj   +1 more source

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study describes the first reported case of concurrent sitosterolemia (STSL) and nephronophthisis (NPHP). Additionally, we provide a systematic review of the clinical and genetic characteristics of Chinese STSL patients, representing the largest comprehensive cohort in China to date.
Dan Ding, Hongmei Wu, Fei Zhao, Bixia Zheng, Qiuxia Chen   +4 more
wiley   +1 more source

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing:a population-based study [PDF]

, 2014
BACKGROUND: Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK.
Soutar, Anne K., Shona M Kerr, Jennifer Biggs, Anne K Soutar, Aitman, Timothy J., Porteous, David J, Morris, Andrew D., Morris, Andrew D, Scotland, Generation, Blair H Smith, Generation Scotland, Smith, Blair H, Anna F Dominiczak, Thomas, Ellen, Soutar, Anne K, Vandrovcova, Jana, Kerr, Shona M, Kerr, Shona M., Archie Campbell, Biggs, Jennifer, Norsworthy, Penny J, David J Porteous, Laurence Game, Thomas, Ellen R. A., Game, Laurence, Penny J Norsworthy, Smith, Blair H., Norsworthy, Penny J., Campbell, Archie, Porteous, David J., Aitman, Timothy J, Ellen RA Thomas, Dominiczak, Anna F, Smith, Blair H.; id_orcid, Jana Vandrovcova, ?, ?, Dominiczak, Anna F., Thomas, Ellen RA, Timothy J Aitman, Andrew D Morris   +39 more
core   +2 more sources

Xanthomas Regression in an 8-Year-Old Boy Treated With Lomitapide

JACC: Case Reports, 2019
This case reports on an 8-year-old boy with homozygous familial hypercholesterolemia with large tuberous xanthomas over his hands, elbows, buttocks, knees, and feet.
Genovefa Kolovou, MD, PhD, Aleksandros Tsoutsinos, MD, Irene Mastorakou, MD, MSc, PhD, Sophie Mavrogeni, MD, PhD, George Hatzigeorgiou, MD   +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, Volume 62, Issue 9, Page 1693-1699, September 2026.
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

Corresponding of Genetic polymorphism the apolipoprotein B R3500Q gene mutation with possible Familial Hypercholesterolemia (FH) pateints in Sulaymaniyah

Tikrit Journal of Pure Science, 2019
Familial Hypercholesterolemia (FH) is autosomal codominant disease Characterized by elevated LDL Cholesterol and Early Coronary Artery disease.
Hadeel A. Abdel-Razaak Al-daraji, Akeel H. Ali Al-Assie, Rada H. Hussien   +2 more
doaj   +1 more source

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR

Molecular Genetics & Genomic Medicine
Background Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder.
Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee   +4 more
doaj   +1 more source

Achieving the impossible: effective reduction of low-density lipoprotein cholesterol (LDL-C) in a patient with homozygous familial hypercholesterolemia

Endokrynologia Polska
Not required for Clinical Vignette.
Mateusz Maligłówka, Aleksandra Sojka, Adrianna Dec, Bogusław Okopień, Łukasz Bułdak   +4 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