Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Atherosclerosis - 1 Aug 2016

Sjouke Barbara, Defesche Joep C, de Randamie Janine S E, Wiegman Albert, Fouchier Sigrid W, Hovingh G Kees

Abstract excerpt

BACKGROUND AND AIMS: We recently identified lysosomal acid lipase (LAL) deficiency, a recessive disease caused by mutations in LIPA, in 3 patients with a clinical diagnosis of familial hypercholesterolemia (FH). We aimed to determine the prevalence of LIPA mutations among individuals with a clinical FH diagnosis. METHODS: In 276 patients with phenotypic FH, in whom no genetic basis for their phenotype was found,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Cholesterol, HDL
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Hyperlipoproteinemia Type II

Share to Prevalence

Share to Sterol Esterase

Share to Triglycerides

Source

Identifiers

PMID: 27423329
DOI: 10.1016/j.atherosclerosis.2016.07.008

Genes

LIPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.PMID 27423329Read ↗

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?Semantic proximity Read ↗

Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene.Semantic proximity Read ↗

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.Semantic proximity Read ↗

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.Semantic proximity Read ↗

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.Semantic proximity Read ↗

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

Next-generation sequencing to confirm clinical familial hypercholesterolemia.Semantic proximity Read ↗

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.Semantic proximity Read ↗

Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.Semantic proximity Read ↗

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.Semantic proximity Read ↗

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.Semantic proximity Read ↗

Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.