Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R) (Q36028620)

11 August 2017

Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R) (English)

1 reference

DOI

https://api.crossref.org/works/10.1007/S11789-012-0041-Y

familial hypercholesterolemia

30 December 2024

main subject

hypercholesterolemia

0 references

1 reference

Bilgen Kurt

2

1 reference

11 August 2017

Alexander Sattler

3

1 reference

11 August 2017

Günter Klaus

4

1 reference

11 August 2017

Muhidien Soufi

5

1 reference

11 August 2017

Juergen R. Schaefer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22528129

30 December 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22528129

30 December 2024

publication date

1 June 2012

1 reference

11 August 2017

June 2012

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22528129

full work available at URL

30 December 2024

https://link.springer.com/content/pdf/10.1007/s11789-012-0041-y.pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22528129

https://europepmc.org/articles/PMC3374117

30 December 2024

file format

HyperText Markup Language

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22528129

https://europepmc.org/articles/PMC3374117?pdf=render

30 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22528129

http://link.springer.com/content/pdf/10.1007/s11789-012-0041-y.pdf

30 December 2024

1 reference

https://api.crossref.org/works/10.1007/S11789-012-0041-Y

http://link.springer.com/article/10.1007/s11789-012-0041-y/fulltext.html

30 December 2024

file format

HyperText Markup Language

1 reference

DOI

https://api.crossref.org/works/10.1007/S11789-012-0041-Y

Clinical research in cardiology supplements

30 December 2024

published in

1 reference

11 August 2017

7

1 reference

11 August 2017

2-6

1 reference

Creative Commons Attribution 2.0 Generic

11 August 2017

start time

28 February 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Premature coronary artery disease and familial hypercholesterolemia: need for early diagnosis and cascade screening in the Indian population

1 reference

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Response by sex to statin plus ezetimibe or statin monotherapy: a pooled analysis of 22,231 hyperlipidemic patients.

2 October 2017

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Cascade Screening for Familial Hypercholesterolemia (FH)

2 October 2017

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Genetic heterogeneity of autosomal dominant hypercholesterolemia.

2 October 2017

1 reference

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Familial hypercholesterolemia and coronary heart disease: a HuGE association review

2 October 2017

1 reference

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Efficacy and safety of ezetimibe coadministered with simvastatin in patients with primary hypercholesterolemia: a randomized, double-blind, placebo-controlled trial

2 October 2017

1 reference

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Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

2 October 2017

1 reference

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DNA testing for familial hypercholesterolemia: improving disease recognition and patient care

2 October 2017

1 reference

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The UMD-LDLR database: additions to the software and 490 new entries to the database.

2 October 2017

1 reference

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The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374117

Evaluation of methods for the measurement of low-density lipoprotein cholesterol.

2 October 2017

1 reference

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A receptor-mediated pathway for cholesterol homeostasis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374117

The LDL receptor gene: a mosaic of exons shared with different proteins

2 October 2017

1 reference

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The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374117

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

2 October 2017

1 reference

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Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia

2 October 2017

1 reference

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Biosynthesis of N- and O-linked oligosaccharides of the low density lipoprotein receptor

11 July 2018

1 reference

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Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374117

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

11 July 2018

1 reference

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A new but frequent mutation of apoB-100-apoB His3543Tyr

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11789-012-0041-Y

Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11789-012-0041-Y

Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation

21 January 2018

1 reference

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The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

21 January 2018

1 reference

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The molecular basis of familial hypercholesterolaemia in Turkish patients

21 January 2018

1 reference

12 December 2020

Clinically applicable mutation screening in familial hypercholesterolemia

1 reference

12 December 2020

Homozygous familial hypercholesterolaemia in identical twins

1 reference

12 December 2020

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

1 reference

12 December 2020

Rapid determination of apolipoprotein E phenotypes from whole plasma by automated isoelectric focusing using PhastSystem and immunofixation

1 reference

12 December 2020

The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis

1 reference

12 December 2020

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

1 reference