Cholesterol Ester Storage Disease

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.

Also Known As:

Cholesteryl Ester Storage Disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Cholesterol Ester Storage Disease: 149
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Cholesterol Ester Storage Disease: 149
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Cholesterol Ester Storage Disease: 149
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Cholesterol Ester Storage Disease: 149
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Cholesterol Ester Storage Disease: 149

Helena Hülkova Selected Research

Helena Hülkova Research Topics

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