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Type Im Congenital Disorder Of Glycosylation

mutation in dolichol kinase (DOLK)

Also Known As:

Congenital Disorder Of Glycosylation, Type Im; CDG1m; CDGIm; Dolichol Kinase Deficiency

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Phosphotransferases: 42769
      - Phosphotransferases (Alcohol Group Acceptor)
        Type Im Congenital Disorder Of Glycosylation: 1
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
        Type Im Congenital Disorder Of Glycosylation: 1
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 570
        Type Im Congenital Disorder Of Glycosylation: 1

Experts

1.	Ben Gal, Tuvia: 1 article (03/2013)
2.	Birk, Einat: 1 article (03/2013)
3.	Frenckel, George: 1 article (03/2013)
4.	Kapusta, Livia: 1 article (03/2013)
5.	Lefeber, Dirk J: 1 article (03/2013)
6.	Lorber, Avraham: 1 article (03/2013)
7.	Mandel, Hanna: 1 article (03/2013)
8.	Medalion, Benjamin: 1 article (03/2013)
9.	Morava, Eva: 1 article (03/2013)
10.	Morgenstern, Sarah: 1 article (03/2013)

Related Diseases

1.	Congenital Disorders of Glycosylation 03/01/2013 - "From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)."
2.	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 03/01/2013 - "From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)."

Related Therapies and Procedures

1.	Heart Transplantation (Grafting, Heart)