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type I congenital disorder of glycosylation
pathology
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metabolic disease
- In metabolic disease: Congenital disorders of glycosylation
…common form of CDG (type I). Other enzymatic defects have been identified, but the biochemical bases of some CDG subtypes have not yet been determined. The classic form of CDG (type Ia) is characterized by low muscle tone in infancy, severe developmental delay, and brain abnormalities. Children with type…
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