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Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease > Wolman Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease > Wolman Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease > Wolman Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Cholesterol Ester Storage Disease > Wolman Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Cholesterol Ester Storage Disease > Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Wolman Disease

Terme préférentiel

Wolman Disease  

Type

  • mesh:Descriptor

Définition

  • The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.

Concept générique

Synonyme(s)

  • Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
  • Acid Lipase Deficiency
  • Familial Xanthomatosis
  • Liposomal Acid Lipase Deficiency, Wolman Type
  • Wolman's Disease
  • Xanthomatosis, Familial
  • Xanthomatosis, Wolman's

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Wolman

    français

  • Déficit en lipase acide lysosomale type Wolman
  • Déficit en lipase acide lysosomiale
  • Xanthomatose familiale primitive

URI

http://data.loterre.fr/ark:/67375/JVR-CDWBVJGV-X

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RDF/XML TURTLE JSON-LD Date de création 12/05/1988, dernière modification le 01/07/2021