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Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome

European heart journal, 2015-03, Vol.36 (9), p.560-565

2015

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Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

European heart journal, 2012-06, Vol.33 (11), p.1360-1366

2012

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Update of the molecular basis of familial hypercholesterolemia in The Netherlands

Human mutation, 2005-12, Vol.26 (6), p.550-556

2005

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Children with hypercholesterolemia of unknown cause: Value of genetic risk scores

Journal of clinical lipidology, 2016-07, Vol.10 (4), p.851-859

2016

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Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia

Arteriosclerosis, thrombosis, and vascular biology, 2005-09, Vol.25 (9), p.1979-1984

2005

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Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

Circulation research, 2014-08, Vol.115 (6), p.552-555

2014

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The molecular basis of familial hypercholesterolemia in The Netherlands

Human genetics, 2001-12, Vol.109 (6), p.602-615

2001

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Lysosomal acid lipase A and the hypercholesterolaemic phenotype

Current opinion in lipidology, 2013-08, Vol.24 (4), p.332-338

2013

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Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia

Atherosclerosis, 2016-08, Vol.251, p.263-265

2016

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Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein

European heart journal, 2013-05, Vol.34 (17), p.1292-1297

2013

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Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement

Journal of medical genetics, 2015-02, Vol.52 (2), p.80-84

2015

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Molecular Basis of Autosomal Dominant Hypercholesterolemia: Assessment in a Large Cohort of Hypercholesterolemic Children

Circulation (New York, N.Y.), 2011-03, Vol.123 (11), p.1167-1173

2011

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Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations

Annals of internal medicine, 2008-05, Vol.148 (9), p.712

2008

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Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

Human mutation, 2010-06, Vol.31 (6), p.752-760

2010

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Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

Human mutation, 2012-02, Vol.33 (2), p.448-455

2012

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What promise does PCSK9 hold?

Journal of the American College of Cardiology, 2005-05, Vol.45 (10), p.1620-1621

2005

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

Circulation. Cardiovascular genetics, 2015-12, Vol.8 (6), p.823-831

2015

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Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia

European journal of human genetics : EJHG, 2005-12, Vol.13 (12), p.1247-1253

2005

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Abstract 591: Genetic Risk Score Does Not Explain Hypercholesterolemic Phenotype in Children with Hypercholesterolemia of Unknown Genetic Origin

Arteriosclerosis, thrombosis, and vascular biology, 2014-05, Vol.34 (suppl_1)

2014

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Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk

Seminars in vascular medicine, 2004-08, Vol.4 (3), p.259

2004

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Global Perspectives of Familial Hypercholesterolemia

Community genetics, 2001, Vol.4 (2), p.61-67

2001

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What Promise Does PCSK9Hold?

Journal of the American College of Cardiology, 2005-05, Vol.45 (10), p.1620-1621

2005

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Molecular and Biochemical Characterization of Rat γ-Trimethylaminobutyraldehyde Dehydrogenase and Evidence for the Involvement of Human Aldehyde Dehydrogenase 9 in Carnitine Biosynthesis

The Journal of biological chemistry, 2000-03, Vol.275 (10), p.7390-7394

2000

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What Promise Does PCSK9Hold?⁎⁎Editorials published in the Journal of the American College of Cardiologyreflect the views of the authors and do not necessarily represent the views of JACCor the American College of Cardiology

Journal of the American College of Cardiology, 2005-05, Vol.45 (10), p.1620-1621

2005

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What Promise Does PCSK9 Hold?Editorials published in the Journal of the American College of Cardiology reflect the views of the authors and do not necessarily represent the views of JACC or the American College of Cardiology

Journal of the American College of Cardiology, 2005-05, Vol.45 (10), p.1620

2005

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Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

Children with hypercholesterolemia of unknown cause: Value of genetic risk scores

Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

The molecular basis of familial hypercholesterolemia in The Netherlands

Lysosomal acid lipase A and the hypercholesterolaemic phenotype

Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia

Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein

Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement

Molecular Basis of Autosomal Dominant Hypercholesterolemia: Assessment in a Large Cohort of Hypercholesterolemic Children

Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

What promise does PCSK9 hold?

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia

Abstract 591: Genetic Risk Score Does Not Explain Hypercholesterolemic Phenotype in Children with Hypercholesterolemia of Unknown Genetic Origin

Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk

Global Perspectives of Familial Hypercholesterolemia

What Promise Does PCSK9Hold?

Molecular and Biochemical Characterization of Rat γ-Trimethylaminobutyraldehyde Dehydrogenase and Evidence for the Involvement of Human Aldehyde Dehydrogenase 9 in Carnitine Biosynthesis

What Promise Does PCSK9Hold?⁎⁎Editorials published in the Journal of the American College of Cardiologyreflect the views of the authors and do not necessarily represent the views of JACCor the American College of Cardiology

What Promise Does PCSK9 Hold?Editorials published in the Journal of the American College of Cardiology reflect the views of the authors and do not necessarily represent the views of JACC or the American College of Cardiology

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