Sigrid W. Fouchier

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 13 publications

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

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

Journal: Atherosclerosis

Published: February 28, 2016

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

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

Journal: Journal of clinical lipidology

Published: November 27, 2015

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

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

Journal: Circulation. Cardiovascular genetics

Published: February 03, 2015

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

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

Journal: Journal of medical genetics

Published: November 22, 2014

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Journal: Circulation research

Published: July 19, 2014

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

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

Journal: European heart journal

Published: March 04, 2014

Exome sequencing in suspected monogenic dyslipidemias.

Exome sequencing in suspected monogenic dyslipidemias.

Journal: Circulation. Cardiovascular genetics

Published: November 15, 2013

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Journal: Arteriosclerosis, thrombosis, and vascular biology

Published: September 28, 2013

Lysosomal acid lipase A and the hypercholesterolaemic phenotype.

Lysosomal acid lipase A and the hypercholesterolaemic phenotype.

Journal: Current opinion in lipidology

Published: May 09, 2013

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

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

Journal: European heart journal

Published: January 18, 2013

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

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

Journal: European heart journal

Published: March 13, 2012

Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia.

Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia.

Journal: Journal of lipid research

Published: March 01, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026