Wolman disease: Diagnosis by leucocyte acid lipase estimation

2005 ◽  
Vol 72 (4) ◽  
pp. 353-354 ◽  
Author(s):  
Talib Y. Surve ◽  
Mamta N. Muranjan ◽  
B. A. Barucha
Keyword(s):  
Disease Diagnosis ◽  
Acid Lipase ◽  
Wolman Disease

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

2001 ◽  
Vol 42 (7) ◽  
pp. 1033-1040 ◽  
Author(s):  
Oliver Zschenker ◽  
Nikola Jung ◽  
Julia Rethmeier ◽  
Sabine Trautwein ◽  
Stefanie Hertel ◽  
...  
Keyword(s):  
Signal Peptide ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Mature Polypeptide

Proposed Treatment for Infants With Wolman Disease

PEDIATRICS ◽  
1989 ◽  
Vol 83 (6) ◽  
pp. 1074-1075
Author(s):  
MOSHE WOLMAN
Keyword(s):  
Lysosomal Enzyme ◽  
Cholesterol Ester ◽  
Reticuloendothelial System ◽  
Cholesterol Esters ◽  
Enzyme Molecule ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Cholesterol Ester Hydrolase ◽  
Ester Hydrolase ◽  
Available Information

Presently available information indicates that Wolman disease is due to a defect in a single lysosomal enzyme molecule, called acid lipase, esterase, or cholesterol ester hydrolase (EC3.1.1.13). Cells of the reticuloendothelial system, hepatocytes, adrenocortical, and presumably many other cells normally, contain a neutral esterase associated with their microsomes, which is not deficient in Wolman disease. Theoretically, catabolism of intracellular hydrophobic cholesterol (esters and triglycerides) should proceed normally in Wolman disease cells whenever the metabolic chain does not depend on lysosomal hydrolysis.

New Diagnostic Method for Lysosomal Acid Lipase Deficiency and the Need to Recognize Its Manifestation in Infants (Wolman Disease)

2015 ◽  
Vol 60 (3) ◽  
pp. e22-e24 ◽  
Author(s):  
Mariana Gómez-Nájera ◽  
Hilario Barajas-Medina ◽  
Mayra C. Gallegos-Rivas ◽  
Pedro Mendez-Sashida ◽  
Kendrick A. Goss ◽  
...  
Keyword(s):  
Diagnostic Method ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease

1996 ◽  
Vol 8 (4) ◽  
pp. 377-380 ◽  
Author(s):  
Jiro Fujiyama ◽  
Hitoshi Sakuraba ◽  
Masaru Kuriyama ◽  
Takehisa Fujita ◽  
Kazuya Nagata ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Acid Lipase ◽  
Lipase Gene ◽  
New Mutation ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase

Plasma oxysterols as a putative biomarker for infantile onset lysosomal acid lipase deficiency (Wolman disease)

2017 ◽  
Vol 120 (1-2) ◽  
pp. S52-S53 ◽  
Author(s):  
Arunabha Ghosh ◽  
James Cooper ◽  
Heather Church ◽  
Simon A. Jones ◽  
HoiYee Wu
Keyword(s):  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

scholarly journals Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice

2008 ◽  
Vol 49 (8) ◽  
pp. 1646-1657 ◽  
Author(s):  
Hong Du ◽  
Terri L. Cameron ◽  
Stephen J. Garger ◽  
Gregory P. Pogue ◽  
Lee A. Hamm ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Storage Disease ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase
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