Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency (Q35200444)

7 August 2017

Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency (English)

1 reference

7 August 2017

1 reference

Demosky SJ Jr

2

1 reference

7 August 2017

Brewer HB Jr

4

1 reference

7 August 2017

J. M. Hoeg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097111

4 August 2023

S. J. Demosky

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097111

4 August 2023

O. H. Pescovitz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097111

4 August 2023

H. B. Brewer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097111

4 August 2023

language of work or name

English

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publication date

1 November 1984

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full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6097111/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097111

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6097111/pdf/?tool=EBI

4 August 2023

file format

Portable Document Format

online access status

open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097111

https://europepmc.org/articles/PMC1684644

4 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097111

https://europepmc.org/articles/PMC1684644?pdf=render

4 August 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097111

American Journal of Human Genetics

4 August 2023

published in

1 reference

7 August 2017

36

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7 August 2017

6

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7 August 2017

1190-1203

1 reference

Protein measurement with the Folin phenol reagent

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

A simple method for the isolation and purification of total lipides from animal tissues

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Lysosomal acid lipase in cultivated fibroblasts: characterization of enzyme activity in normal and enzymatically deficient cell lines

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

The corticotropin-releasing factor stimulation test. An aid in the evaluation of patients with Cushing's syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

The Phosphomannosyl Recognition System for Intracellular and Intercellular Transport of Lysosomal Enzymes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Enzyme deficiency in cholesteryl ester storage idisease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Single-antibody technique for radioimmunoassay of cortisol in unextracted serum or plasma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Lipid accumulation and acid lipase deficiency in fibroblasts from a family with Wolman's disease, and their apparent correction in vitro.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Measurement of renin activity, concentration and substrate in rat plasma by radioimmunoassay of angiotensin I.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of wolman's disease?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

The picomole determination of free and total cholesterol in cells in culture

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Acid acylhydrolase deficiency in I-cell disease and pseudo-hurler polydystrophy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

Genetic heterogeneity in human neuraminidase deficiency.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684644

A radioimmunoassay for aldosterone in human peripheral plasma including a comparison of alternate techniques

26 September 2018

1 reference

12 December 2020

Deficient activity of hepatic acid lipase in cholesterol ester storage disease

1 reference

12 December 2020

Acid lipase in cultured fibroblasts: cholesterol ester storage disease

1 reference

12 December 2020

Cholesterol ester storage disease: clinical, biochemical, and pathological studies

1 reference

12 December 2020

Acid lipase deficiency: clinical and biochemical heterogeneity

1 reference

12 December 2020

Purification of the lysosomal acid lipase from human liver and its role in lysosomal lipid hydrolysis

1 reference

12 December 2020

Recognition and receptor-mediated endocytosis of the lysosomal acid lipase secreted by cultured human fibroblasts

1 reference

12 December 2020

Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease

1 reference

12 December 2020

Characterization of neutral and acid ester hydrolase in Wolman's disease

1 reference

12 December 2020

Dextran sulfate-Mg2+ precipitation procedure for quantitation of high-density-lipoprotein cholesterol

1 reference

12 December 2020

Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH

1 reference

12 December 2020

CT findings in acid lipase deficiency: wolman disease and cholesteryl ester storage disease

1 reference

12 December 2020

Deficiency of an Acid Lipase in Wolman's Disease

1 reference

12 December 2020

Identifiers

PMCID

1684644

1 reference

7 August 2017

1 reference