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... > 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

Término preferido

Wolman Disease  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

  • 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

En otras lenguas

  • Maladie de Wolman

    francés

  • 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 Creado 12/5/88, última modificación 1/7/21