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

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Cholesterol Ester Storage Disease  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

Concepto genérico

Conceptos específicos

Conceptos relacionados

Etiquetas alternativas

  • Cholesteryl Ester Storage Disease

En otras lenguas

  • Maladie de stockage des esters de cholestérol

    francés

  • Cholestérolose hépatique
  • Maladie de Caroli-Schiff
  • Maladie de stockage en esters du cholestérol
  • Maladie de surcharge en cholestérol estérifié
  • Polycorie cholestérolique

URI

http://data.loterre.fr/ark:/67375/JVR-RLDTH8L7-N

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RDF/XML TURTLE JSON-LD Creado 11/5/88, última modificación 1/7/21