Congenital Disorders of Glycosylation

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.

Also Known As:

Carbohydrate Deficient Glycoprotein Syndrome; Carbohydrate-Deficient Glycoprotein Syndromes; Syndrome, Carbohydrate-Deficient Glycoprotein; Syndromes, Carbohydrate-Deficient Glycoprotein; Carbohydrate-Deficient Glycoprotein Syndrome; Glycoprotein Syndrome, Carbohydrate-Deficient

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 570
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 570

Debbie Komaromy Selected Research

Debbie Komaromy Research Topics

Disease

Drug/Important Bio-Agent (IBA)