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Academic Journal

Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.

  • Authors : Tylki-Szymańska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.; Jurecka A

Subjects: Cholesterol Ester Storage Disease/Cholesterol Ester Storage Disease/Cholesterol Ester Storage Disease/*etiology ; Cholesterol Esters/Cholesterol Esters/Cholesterol Esters/*metabolism ; Lipase/Lipase/Lipase/*metabolism

  • Source: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) [Pril (Makedon Akad Nauk Umet Odd Med Nauki)] 2014; Vol. 35 (1), pp. 99-106.Publisher: Makedonska akademija na naukite i umetnostite Country of Publication: North Macedonia NLM ID: 101677081 Publication Model: Print Cited Medium:

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Academic Journal

Cholesteryl Ester Crystals in Lysosomal Acid Lipase Deficiency.

Subjects: Cholesterol Esters/Cholesterol Esters/Cholesterol Esters/*analysis ; Kupffer Cells/Kupffer Cells/Kupffer Cells/*chemistry ; Liver/Liver/Liver/*pathology

  • Source: The New England journal of medicine [N Engl J Med] 2017 Mar 02; Vol. 376 (9), pp. e14.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.

  • Authors : Zschenker O; Department of Medicine, University Hospital Eppendorf, 20246 Hamburg, Germany.; Jung N

Subjects: Cholesterol Esters/Cholesterol Esters/Cholesterol Esters/*metabolism ; Fetal Diseases/Fetal Diseases/Fetal Diseases/*genetics ; Lipase/Lipase/Lipase/*deficiency

  • Source: Journal of lipid research [J Lipid Res] 2001 Jul; Vol. 42 (7), pp. 1033-40.Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print Cited Medium: Print ISSN: 0022-2275 (Print)

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Academic Journal

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

  • Authors : Thelwall PE; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK. ; Smith FE

Subjects: Cholesterol Esters/Cholesterol Esters/Cholesterol Esters/*metabolism ; Liver/Liver/Liver/*metabolism ; Sterol Esterase/Sterol Esterase/Sterol Esterase/*deficiency

  • Source: Journal of hepatology [J Hepatol] 2013 Sep; Vol. 59 (3), pp. 543-9. Date of Electronic Publication: 2013 Apr 25.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8503886 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A New Mutation in Diagnosis of Wolman Disease: Case Report.

Subjects: *GENETIC mutation; *WOLMAN disease; *CHOLESTEROL esters

  • Source: Journal of Academic Research in Medicine. 2019, Vol. 9 Issue 4, p150-152. 3p.

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Academic Journal

Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

Subjects: *HYPERCHOLESTEREMIA diagnosis; *WOLMAN disease; *FATTY degeneration

  • Source: International Journal of Molecular Sciences. 2015, Vol. 16 Issue 12, p28014-28021. 8p. 1 Diagram, 1 Chart.

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Academic Journal

Novel Mutation in a Patient with Cholesterol Ester Storage Disease.

Subjects: LIVER diseases; GENETIC mutation; CHOLESTEROL esters

  • Source: Case Reports in Genetics; 2/5/2015, Vol. 2015, p1-4, 4p

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Academic Journal

Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.

Subjects: AUTOSOMAL recessive polycystic kidney; GENETIC disorders; RARE diseases

  • Source: Journal of Clinical Pathology; Nov2013, Vol. 66 Issue 11, p918-923, 6p, 1 Diagram, 1 Chart

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Academic Journal

Intercellular transport of lysosomal acid lipase mediates lipoprotein cholesteryl ester metabolism in a human vascular endothelial cell-fibroblast coculture system.

  • Authors : Sando GN; Department of Internal Medicine, University of Iowa, Iowa City 52242.; Ma GP

Subjects: Cholesterol Esters/Cholesterol Esters/Cholesterol Esters/*metabolism ; Endothelium, Vascular/Endothelium, Vascular/Endothelium, Vascular/*metabolism ; Fibroblasts/Fibroblasts/Fibroblasts/*metabolism

  • Source: Cell regulation [Cell Regul] 1990 Aug; Vol. 1 (9), pp. 661-74.Publisher: American Society for Cell Biology Country of Publication: United States NLM ID: 9005331 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

Cholesterol esters selectively taken up from high-density lipoproteins are hydrolyzed extralysosomally.

  • Authors : Sparrow CP; Department of Medicine, University of California, San Diego, La Jolla 92093.; Pittman RC

Subjects: Cholesterol Esters/Cholesterol Esters/Cholesterol Esters/*metabolism ; Fibroblasts/Fibroblasts/Fibroblasts/*metabolism ; Lipoproteins, HDL/Lipoproteins, HDL/Lipoproteins, HDL/*metabolism

  • Source: Biochimica et biophysica acta [Biochim Biophys Acta] 1990 Apr 02; Vol. 1043 (2), pp. 203-10.Publisher: Elsevier Pub. Co Country of Publication: Netherlands NLM ID: 0217513 Publication Model: Print Cited Medium: Print ISSN: 0006-3002

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  • 1-10 of  38 results for ""Wolman Disease""