Results 71 to 80 of about 30,028 (235)

Patient with homozygous familial hypercholesterolemia: difficult to treat. Case report

, 2020
Homozygous familial hypercholesterolemia is a severe genetic disorder characterized by extremely high levels of total cholesterol and low-density lipoprotein cholesterol (LDL-C), as well as by rapid atherosclerosis progression in various vascular ...
Andrey V. Susekov, Irina V. Leontieva, Balakhonova T.V., Vladislav M. Soloviev, Irina M. Miklashevich, Yuliia S. Isaeva   +5 more
core   +1 more source

Coronary artery bypass grafting in a 14-year-old boy with compound heterozygous LDLR familial hypercholesterolemia: a case report

Frontiers in Pediatrics
Familial hypercholesterolemia (FH), particularly homozygous or compound heterozygous forms, predisposes individuals to premature cardiovascular disease due to severely elevated low-density lipoprotein cholesterol (LDL-C).
Ke Zhu, Fuqiang Zhang, Jin Wang, Chunjing Li   +3 more
doaj   +1 more source

Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia [PDF]

New England Journal of Medicine, 2021
Daniel, Gaudet, Andrea, Ruzza, Raul D, Santos   +2 more
openaire   +3 more sources

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, EarlyView.
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

LDLR-Gene therapy for familial hypercholesterolaemia: Problems, progress, and perspectives

, 2010
Coronary artery diseases (CAD) inflict a heavy economical and social burden on most populations and contribute significantly to their morbidity and mortality rates.
Charles Coutelle, Harbottle, R, Anna L David, Themis, M, Al-Allaf, FA, Waddington, SN, David, A, Faisal A Al-Allaf, Michael Themis, Coutelle, C, Simon N Waddington, Richard Harbottle   +11 more
core   +1 more source

Statins for children with familial hypercholesterolemia [PDF]

, 2019
Background: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease.
Vuorio, A., Humphries, S.E., Kovanen, P.T., Drogari, E., Tonstad, S., Wiegman, A., Kuoppala, J., Ramaswami, U.   +7 more
core   +2 more sources

Therapeutic apheresis in a pregnant woman with heterozygous familial hypercholesterolemia

Nefrología (English Edition)
Zoila Stany Albines Fiestas, María Victoria Rubio Rubio, José Antonio Gimeno Orna, Ana Belén Mañas Martínez, Virginia Arroyo Espallargas, Jordi Bosch Melguizo, Beatriz María Rojas Pérez-Ezquerra, Carmen Criado Mainar, Fernando Anaya-Fernández Lomana, Pablo Iñigo Gil   +9 more
doaj   +3 more sources

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 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  

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source