(Q35010930)

5 August 2017

0 references

Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report (English)

1 reference

5 August 2017

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1

Uta Drebber

1 reference

5 August 2017

Matthias Andersen

2

1 reference

5 August 2017

Hans U Kasper

3

1 reference

5 August 2017

Peter Lohse

4

1 reference

5 August 2017

Manfred Stolte

5

1 reference

5 August 2017

Hans P Dienes

6

1 reference

5 August 2017

language of work or name

English

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publication date

1 April 2005

1 reference

World Journal of Gastroenterology

5 August 2017

published in

1 reference

5 August 2017

volume

11

1 reference

5 August 2017

issue

15

1 reference

5 August 2017

page(s)

2364-2366

1 reference

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305829

Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305829

Cholesterol ester storage disease: clinical, biochemical, and pathological studies of four new cases.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305829

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.3748%2FWJG.V11.I15.2364

Genomic organization of the human lysosomal acid lipase gene (LIPA).

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.3748%2FWJG.V11.I15.2364

Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305829

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305829

Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305829

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

25 October 2018

1 reference

12 December 2020

Cholesteryl ester storage disease: case report during childhood

1 reference

12 December 2020

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

1 reference

12 December 2020

Liver transplantation for cholesteryl ester storage disease

1 reference

12 December 2020

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

12 December 2020

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer

1 reference

12 December 2020

[Cholesterol ester storage disease (CESD)]

1 reference

12 December 2020

Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy

1 reference

12 December 2020

Treatment and liver transplantation for cholesterol ester storage disease

1 reference

12 December 2020

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease

1 reference

12 December 2020

A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin

1 reference

12 December 2020

End-stage renal disease in a patient with cholesteryl ester storage disease following successful liver transplantation and cyclosporine immunosuppression

1 reference

12 December 2020

Identifiers

DOI

10.3748/WJG.V11.I15.2364

1 reference

5 August 2017

1 reference

5 August 2017

1 reference