Results 31 to 40 of about 234,426 (253)

Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia

open access: yesРоссийский кардиологический журнал, 2023
Aim. To assess the detection rate of familial hypercholesterolemia among outpa­tients visiting a lipidologist.Material and methods. We analyzed the causes and nature of lipid metabolism disorders in patients of the Adult Lipidology Center as follows ...
Z. F. Kim   +3 more
doaj   +1 more source

Prevalence of definite and probable familial hypercholesterolemia in sub-groups.

open access: yes, 2022
Prevalence of definite and probable familial hypercholesterolemia in sub-groups.
Rajeev Gupta (73892)   +4 more
core   +1 more source

Beyond Nature's Blueprint: Macrocyclic Peptides Containing Unnatural Amino Acids in Therapeutic Development

open access: yesAngewandte Chemie, EarlyView.
Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma   +5 more
wiley   +2 more sources

Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia?

open access: yes, 2020
PURPOSE OF REVIEW: This review explores the concepts of monogenic and the so-called polygenic familial hypercholesterolemia and how the identification of familial hypercholesterolemia as a monogenic condition and its separation from polygenic primary ...
Ray, Kausik K   +7 more
core   +1 more source

Familial Hypercholesterolemia in Pediatric Patients

open access: yes, 2020
Familial hypercholesterolemia is one of the most common severe genetic conditions in the pediatric population. When left untreated, familial hypercholesterolemia could lead to cardiovascular events and, in some cases, death. This article will explore the
Ichull, Joseph A, Jr
core   +1 more source

The economic impact of hypercholesterolemia and mixed dyslipidemia: A systematic review of cost of illness studies.

open access: yesPLoS ONE, 2021
Hypercholesterolemia is a clinically relevant condition with an ascertained role in atherogenesis. In particular, its presence directly correlates to the risk of atherosclerotic cardiovascular disease (ASCVD).
Pietro Ferrara   +3 more
doaj   +1 more source

Molecular genetic diagnosis of a heterozygous form of familial hypercholesterolemia at a young age: a clinical case

open access: yesАтеросклероз, 2022
Patients with familial hypercholesterolemia should be monitored throughout life, starting at an early age, since high levels of low-density lipoprotein cholesterol from birth and its cumulative effect play a significant role in the early development of ...
Olga V. Timoshchenko   +4 more
doaj   +1 more source

Lipoprotein(a) in children and adolescents with genetically confirmed familial hypercholesterolemia followed up at a specialized lipid clinic

open access: yesAtherosclerosis Plus
Background and aim: Many children with an FH mutation also exhibit elevated lipoprotein(a) levels, which is an independent risk factor for atherosclerotic cardiovascular disease.
Anja K. Johansen   +8 more
doaj   +1 more source

Ocular manifestations of severe familial hypercholesterolemia

open access: yesHeliyon
Background: To study ocular manifestations of patients with severe familial hypercholesterolemia (FH). Methods: In this population-based case-control study, patients suffering from severe familial hypercholesterolemia from the Lebanese Familial ...
Alaa Bou Ghannam   +5 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon   +5 more
wiley   +1 more source

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