Skip to search formSkip to main contentSkip to account menu

Wolman Disease

Known as: Xanthomatosis, Wolmans, Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type, Disease, Wolman's 
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by… 
National Institutes of Health

Related topics

Related topics

16 relations

Narrower (2)

Acid cholesteryl ester hydrolase deficiency, type 2Wolman Disease with Hypolipoproteinemia and Acanthocytosis

Broader (3)

Cholesterol Ester Storage DiseaseLysosomal Storage DiseasesXanthomatosis
Hereditary DiseasesIn BloodInborn Errors of MetabolismLIPA, 1-BP DEL, 482A

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
1989
1989
Proposed treatment for infants with Wolman disease.
Presently available information indicates that Wolman disease is due to a defect in a single lysosomal enzyme molecule, called… 
1989
1989
Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation.
Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800… 
1986
1986
Tendon xanthomas associated with cholestanolosis and hyperapobetalipoproteinemia.
Large Achilles tendon xanthomas of the type found in severe familial hypercholesterolemia were the first manifestation of… 
1977
1977
Radiographic findings in Wolman's disease.
A case of Wolman's disease or primary familial xanthomatosis with calcification of the adrenals is presented. The bilaterally… 
Highly Cited
1975
Highly Cited
1975
Identification of pentahydroxy bile alcohols in cerebrotendinous xanthomatosis: characterization of 5beta-cholestane-3alpha, 7alpha, 12alpha, 24xi, 25-pentol and 5beta-cholestane-3alpha, 7alpha…
This paper describes studies dealing with the nature of the C27 pentahydroxy bile alcohols present in the bile and feces of two… 
1972
1972
Wolman's disease. Roentgen observations in 3 siblings.
Abstract Wolman's disease is a rare familial xanthomatosis resulting in death in early infancy. Diffuse punctate calcifications… 
1970
1970
Deficiency of Acid Esterase Activity in Wolman's Disease
Liver, spleen, and leucocytes from patients with acid triglyceride lipase deficiency (Wolman's disease and its clinical variants… 
1970
1970
Wolman's disease: a microscopic and biochemical study showing accumulation of ceroid and esterified cholesterol.
A case of Wolman's disease is described in a female infant who died at 7 weeks of age. This rare familial disorder is… 
1968
1968
Involvement of nervous tissue in primary familial xanthomatosis with adrenal calcification.
1965
1965
Serum and tissue lipids in patients with familial xanthomatosis.