Skip to search formSkip to main contentSkip to account menu

Hyperlipoproteinemia Type IIa

Known as: Type IIa Hyperlipoproteinemia, FHC, FH 
An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in… 
National Institutes of Health

Related topics

Related topics

6 relations
Arcus SenilisAutosomal dominant inheritanceEyelid XanthomaLDLR gene

Broader (1)

Hypercholesterolemia, Familial

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
MicroRNA-Like Small RNAs Prediction in the Development of Antrodia cinnamomea
Antrodia cinnamomea, a precious, host-specific brown-rot fungus that has been used as a folk medicine in Taiwan for centuries is… 
2013
2013
Familial Hypertrophic Cardiomyopathy Related Cardiac Troponin C L29Q Mutation Alters Length-Dependent Activation and Functional Effects of Phosphomimetic Troponin I*
The Ca2+ binding properties of the FHC-associated cardiac troponin C (cTnC) mutation L29Q were examined in isolated cTnC… 
2012
2012
Sensing micelle hydration by proton-transfer dynamics of a 3-hydroxychromone dye: role of the surfactant headgroup and chain length.
The dynamics of the excited-state intramolecular proton-transfer (ESIPT) reaction of 2-(2'-furyl)-3-hydroxychromone (FHC) was… 
2007
2007
Reduced dimensionality quantum scattering calculations on the F + CH(4) --> FH + CH(3) reaction.
The existence of recently observed scattering resonances in the hydrogen abstraction reaction F + CH4 --> FH + CH3 was… 
2007
2007
Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
CONTEXT Autosomal dominant hypercholesterolemia (ADH) is frequently caused by functional mutations in the low-density lipoprotein… 
2002
2002
Receptor-associated protein facilitates proper folding and maturation of the low-density lipoprotein receptor and its class 2 mutants.
Familial hypercholesterolemia is the consequence of various mutations in the low-density lipoprotein receptor (LDLR). In the… 
Highly Cited
1996
Highly Cited
1996
Computation of Electron Affinities of O and F Atoms, and Energy Profile of F-H2 Reaction by Density Functional Theory and Ab Initio Methods
The validity of hybrid and nonlocal DFT methods are tested on examples of systems which are difficult to model by way of quantum… 
Review
1994
Review
1994
Molecular genetics of familial hypertrophic cardiomyopathy.
Familial Hypertrophic Cardiomyopathy is the first inherited primary cardiomyopathy for which genetic studies have been conducted… 
1984
1984
Familial type IIa hyperlipoproteinemia associated with a huge intracranial xanthoma.
Hypercholesterolemia tends to be associated with xanthoma, commonly occurring in the extensor tendons. The present report deals… 
1982
1982
Assessment of plasma total cholesterol as a test to detect elevated low density (beta) lipoprotein cholesterol levels (type IIa hyperlipoproteinemia) in young subjects from a population-based sample.
The measurement of plasma total cholesterol as a screening test for an increased plasma level of low density lipoprotein… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)