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"PMM2-congenital" disorder of glycosylation
- PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many ...
- ... the PMM2 gene have been found to cause PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
- Metabolic Disorders (National Library of Medicine)Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- ... kidney disease Beta thalassemia Bloom syndrome Canavan disease PMM2 -congenital disorder of glycosylation , also called PMM2 -CDG Cystic fibrosis D-bifunctional ...