Phosphoglucomutase 1 deficiency: dietary supplementation with Galactose is resulted in changes suggestive of clinical improvement
Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. A study has evaluated patients who had...
The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. Researchers have identified...
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