(Q35122001)

6 August 2017

1 reference

title

A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia (English)

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6 August 2017

0 references

2

Margaret Thorogood

1 reference

6 August 2017

Dalya Marks

1

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6 August 2017

H Andrew W Neil

series ordinal

3

1 reference

6 August 2017

Steve E Humphries

series ordinal

4

1 reference

6 August 2017

language of work or name

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1 May 2003

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6 August 2017

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6 August 2017

168

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6 August 2017

1

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6 August 2017

1-14

1 reference

Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states

6 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Familial Hypercholesterolaemia Regression Study: a randomised trial of low-density-lipoprotein apheresis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

The effect of pravastatin on coronary events after myocardial infarction in patients with average cholesterol levels. Cholesterol and Recurrent Events Trial investigators

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia. West of Scotland Coronary Prevention Study Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Primary prevention of acute coronary events with lovastatin in men and women with average cholesterol levels: results of AFCAPS/TexCAPS. Air Force/Texas Coronary Atherosclerosis Prevention Study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

The molecular basis of familial hypercholesterolemia in The Netherlands

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Proof of "disease causing" mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Detection of point mutations and a gross deletion in six Hunter Syndrome patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Results from a family and DNA based active identification programme for familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Familial hypercholesterolemia in French-Canadians: taking advantage of the presence of a "founder effect".

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Effect of rosuvastatin on low-density lipoprotein cholesterol in patients with hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

New horizons in combination drug therapy for hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Atorvastatin, a New HMG-CoA Reductase Inhibitor as Monotherapy and Combined With Colestipol

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Reduction of serum cholesterol in postmenopausal women with previous myocardial infarction and cholesterol malabsorption induced by dietary sitostanol ester margarine: women and dietary sitostanol

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Randomised controlled trial of use by hypercholesterolaemic patients of a vegetable oil sterol-enriched fat spread

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Plasma mevalonic acid, an index of cholesterol synthesis in vivo, and responsiveness to HMG-CoA reductase inhibitors in familial hypercholesterolaemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Effect of HELP-LDL-apheresis on outcomes in patients with advanced coronary atherosclerosis and severe hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Low-density lipoprotein apheresis for the treatment of refractory hyperlipidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Therapeutic effects of LDL apheresis in the prevention of atherosclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Heart-liver transplantation in a patient with familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

[Allogenic liver transplantation: a form of "gene therapy" in metabolic diseases. Munich results and a review]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Plasma exchange and heart-liver transplantation in a patient with homozygous familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Ex vivo gene therapy of familial hypercholesterolemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Reversal of hypercholesterolemia in low density lipoprotein receptor knockout mice by adenovirus-mediated gene transfer of the very low density lipoprotein receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Recent advances in liver-directed gene therapy: implications for the treatment of dyslipidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Gene therapy methods in cardiovascular diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Effective treatment of familial hypercholesterolaemia in the mouse model using adenovirus-mediated transfer of the VLDL receptor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Neonatal diagnosis of familial type-II hyperlipoproteinaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Rising cholesterol levels in children with familial hypercholesterolaemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Neonatal diagnosis of familial hypercholesterolemia in newborns born to a parent with a molecularly defined heterozygous familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Screening of cord blood low-density-lipoprotein cholesterol in the diagnosis of familial hypercholesterolaemia: a study of 2000 infants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Atherosclerosis and its evolution in childhood.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Correction of endothelial dysfunction in coronary microcirculation of hypercholesterolaemic patients by L-arginine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Plant sterol-enriched margarines and reduction of plasma total- and LDL-cholesterol concentrations in normocholesterolaemic and mildly hypercholesterolaemic subjects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Stanol ester margarine alone and with simvastatin lowers serum cholesterol in families with familial hypercholesterolemia caused by the FH-North Karelia mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Long-term follow-up of children with familial hypercholesterolaemia treated with cholestyramine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: effects of therapy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Efficacy and safety of cholestyramine therapy in peripubertal and prepubertal children with familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Low dose colestipol in adolescents with familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: a randomized controlled trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Chip-based genotyping by mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Ischaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis. A comparative study of genetic and environmental factors in 274 heterozygous cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Coronary Disease in Familial Hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

Improved survival of patients with homozygous familial hypercholesterolaemia treated with plasma exchange

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900330-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0021-9150(02)00330-1

1 reference

6 August 2017

1 reference