Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia (Q37727765)

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scientific article published on 26 September 2013

Language	Label	Description	Also known as
English	Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia	scientific article published on 26 September 2013

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scholarly article

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22 August 2017

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

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22 August 2017

autosomal recessive hypercholesterolemia

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hypercholesterolemia

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cholesterol ester storage disease

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based on heuristic

inferred from title

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Hugh Christian Watkins

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Jeanette Erdmann

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David Altshuler

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Heribert Schunkert

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Heribert Schunkert

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Stacey Gabriel

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Marju Orho-Melander

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Marju Orho-Melander

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Charles Kooperberg

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Charles Kooperberg

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Ulf de Faire

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Nathan O Stitziel

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Nathan O Stitziel

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Nicola Martinelli

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Nicola Martinelli

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Stefano Duga

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Muredach P. Reilly

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Muredach P Reilly

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Nilesh J Samani

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Sekar Kathiresan

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Sekar Kathiresan

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Olle Melander

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Daniel J Rader

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John J. P. Kastelein

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John J P Kastelein

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Leslie A. Lange

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Leslie A Lange

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Diego Ardissino

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Diego Ardissino

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Gina M Peloso

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Paul L Auer

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Anuj Goel

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Martin Farrall

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Ruth McPherson

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Sigrid W Fouchier

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Sigrid W Fouchier

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G Kees Hovingh

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Timothy J Barnes

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Timothy A Barnes

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Suthesh Sivapalaratnam

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Suthesh Sivapalaratnam

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Majid Nikpay

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National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project

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National Heart, Lung, and Blood Institute GO Exome Sequencing Project

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Rebecca D. Jackson

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Rebecca D Jackson

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Aart J Nederveen

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author name string

Barbara Sjouke

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Alessa M Moscoso

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Domenico Girelli

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Lawrence Charnas

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Joep C Defesche

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22 August 2017

language of work or name

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publication date

26 September 2013

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Arteriosclerosis, Thrombosis, and Vascular Biology

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33

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12

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2909-2914

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22 August 2017

Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Next-generation DNA sequencing

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Identification of cholesteryl esters in human carotid atherosclerosis by ex vivo image-guided proton MRS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Generalized xanthomatosis with calcified adrenals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

23 August 2017

Revisiting Mendelian disorders through exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

6 September 2017

Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

1 September 2018

Cholesteryl ester storage disease: a most unusual manifestation of deficiency of two lysosomal enzyme activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4002172

1 September 2018

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24072694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of an Acid Lipase in Wolman's Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24072694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficient activity of hepatic acid lipase in cholesterol ester storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24072694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24072694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of cholesteryl ester storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24072694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24072694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/ATVBAHA.113.302426

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

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