Results 71 to 80 of about 284,051 (203)

Early‐onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease

Clinical Case Reports
Key Clinical Message Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease.
Harsimran Kalsi, Ankur Singla, Sukhjot Kaur, Amogh Verma, Nathnael Abera Woldehana, Sarvesh Rustagi, Mahendra Pratap Singh   +6 more
doaj   +1 more source

Genome Editing for Glycogen Storage Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Gene therapy has been developed for several glycogen storage diseases and has advanced into clinical trials. However, the limitations of these gene therapies with regard to stability following treatment early in life have led to the development of genome editing.
Troy von Beck, Raymond Wang, Dwight Koeberl   +2 more
wiley   +1 more source

Ação hipocolesterolemiante da lovastina: estudo retrospectivo de 15 casos. [PDF]

, 1990
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Eing, Débora Brandão
core  

LDL Receptor Gene-ablated Hamsters: A Rodent Model of Familial Hypercholesterolemia With Dominant Inheritance and Diet-induced Coronary Atherosclerosis

EBioMedicine, 2018
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease caused mainly by LDL receptor (Ldlr) gene mutations. Unlike FH patients, heterozygous Ldlr knockout (KO) mice do not show a dominant FH trait.
Xin Guo, Mingming Gao, Yunan Wang, Xiao Lin, Liu Yang, Nathan Cong, Xiangbo An, Feng Wang, Kai Qu, Liqing Yu, Yuhui Wang, Jinjie Wang, Haibo Zhu, Xunde Xian, George Liu   +14 more
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

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Mecanismos moleculares que relacionam a hipercolesterolemia familiar à doença de Alzheimer [PDF]

, 2015
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Bioquímica, Florianópolis, 2015.A hipercolesterolemia familiar é uma doença do metabolismo das lipoproteínas causada por anormalidades ...
Oliveira, Jade de
core  

Molecular basis of familial hypercholesterolemia

, 2017
Purpose of review To provide an overview about the molecular basis of familial hypercholesterolemia. Recent findings Familial hypercholesterolemia is a common hereditary cause of premature coronary heart disease. It has been estimated that 1 in every 250
Hovingh, Gerard K., Gerard K. Hovingh, Caroline S. Bruikman, Bruikman, Caroline S., John J.P. Kastelein, Kastelein, John J. P.   +5 more
core   +1 more source

Life Course Approach for Managing Familial Hypercholesterolemia

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Treatment of familial hypercholesterolemia is directed toward the moment of the medical encounter. However, risk for heart disease as a consequence of having familial hypercholesterolemia is related to lifelong exposure to elevated low‐density ...
Samuel S. Gidding, Dirk J. Blom, Brian McCrindle, Uma Ramaswami, Raul D. Santos, Gerald F. Watts, Albert Wiegman   +6 more
doaj   +1 more source

Alirocumab—a novel drug for familial hypercholesterolemia

National Journal of Physiology, Pharmacy and Pharmacology, 2016
Familial hypercholesterolemia (FH) is a genetically transmitted condition, wherein abnormally high levels of total cholesterol and low density lipoproteins (LDL) are seen.
Priyanka Kamath, Preethi J Shenoy
doaj   +1 more source