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

scientific article published on November 1, 1984

Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency is …
instance of (P31):
scholarly articleQ13442814

External links are
P953full work available at URLhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6097111/?tool=EBI
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6097111/pdf/?tool=EBI
https://europepmc.org/articles/PMC1684644
https://europepmc.org/articles/PMC1684644?pdf=render
P932PMC publication ID1684644
P698PubMed publication ID6097111

P2093author name stringBrewer HB Jr
Demosky SJ Jr
H. B. Brewer
J. M. Hoeg
O. H. Pescovitz
S. J. Demosky
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The picomole determination of free and total cholesterol in cells in cultureQ39601488
The Phosphomannosyl Recognition System for Intracellular and Intercellular Transport of Lysosomal EnzymesQ40128818
Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage diseaseQ40622069
The corticotropin-releasing factor stimulation test. An aid in the evaluation of patients with Cushing's syndromeQ42453785
Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of wolman's disease?Q43485872
Lipid accumulation and acid lipase deficiency in fibroblasts from a family with Wolman's disease, and their apparent correction in vitro.Q43711439
Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspectsQ44290254
Lysosomal acid lipase in cultivated fibroblasts: characterization of enzyme activity in normal and enzymatically deficient cell linesQ44600613
Cholesteryl ester storage disease: a most unusual manifestation of deficiency of two lysosomal enzyme activitiesQ44679760
Single-antibody technique for radioimmunoassay of cortisol in unextracted serum or plasmaQ47889326
Genetic heterogeneity in human neuraminidase deficiency.Q52104266
Measurement of renin activity, concentration and substrate in rat plasma by radioimmunoassay of angiotensin I.Q54474195
Deficiency of an Acid Lipase in Wolman's DiseaseQ59053697
Acid lipase deficiency: clinical and biochemical heterogeneityQ67002544
A radioimmunoassay for aldosterone in human peripheral plasma including a comparison of alternate techniquesQ67272802
Cholesterol ester storage disease: clinical, biochemical, and pathological studiesQ67570954
Acid lipase in cultured fibroblasts: cholesterol ester storage diseaseQ69778605
Recognition and receptor-mediated endocytosis of the lysosomal acid lipase secreted by cultured human fibroblastsQ70274233
Characterization of neutral and acid ester hydrolase in Wolman's diseaseQ70305528
Dextran sulfate-Mg2+ precipitation procedure for quantitation of high-density-lipoprotein cholesterolQ70334208
Deficient activity of hepatic acid lipase in cholesterol ester storage diseaseQ70356542
Purification of the lysosomal acid lipase from human liver and its role in lysosomal lipid hydrolysisQ70687031
Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery diseaseQ71587896
CT findings in acid lipase deficiency: wolman disease and cholesteryl ester storage diseaseQ71830638
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTHQ72933045
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectWolman diseaseQ6710283
P304page(s)1190-1203
P577publication date1984-11-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleCholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency
P478volume36

Reverse relations

cites work (P2860)
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Q28730628Genomics and proteomics of vertebrate cholesterol ester lipase (LIPA) and cholesterol 25-hydroxylase (CH25H)
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