(Q37727765)

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

1 reference

Europe PubMed Central

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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Europe PubMed Central

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

8

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22 August 2017

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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22 August 2017

Rebecca D. Jackson

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Rebecca D Jackson

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35

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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

30

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22 August 2017

Joep C Defesche

34

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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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22 August 2017

Arteriosclerosis, Thrombosis, and Vascular Biology

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22 August 2017

33

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22 August 2017

12

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22 August 2017

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

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

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

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

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

22 August 2017

1 reference

Europe PubMed Central

22 August 2017

1 reference

Europe PubMed Central

22 August 2017

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