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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.
2012
2012
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL‐Cl Levels
Autosomal Dominant Hypercholesterolemia (ADH) is caused by LDLR and APOB mutations. However, genetically diagnosed ADH patients… 
2010
2010
Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.
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… 
Highly Cited
2004
Highly Cited
2004
Genetic variants in PCSK9 affect the cholesterol level in Japanese
AbstractMutations in the proprotein convertase subtilisin/kexin 9 (PCSK9) gene have been reported in affected members of two… 
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… 
2001
2001
Altered interneuron development in the cerebral cortex of the flathead mutant.
One approach to defining mechanisms essential to neocortical development is to analyze the phenotype of novel spontaneous… 
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… 
1988
1988
Altered lipid composition and thromboxane A2 formation in platelets from patients affected by IIa hyperlipoproteinemia.
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… 
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