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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.

We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.[1]

References

  1. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. Babovic-Vuksanovic, D., Patterson, M.C., Schwenk, W.F., O'Brien, J.F., Vockley, J., Freeze, H.H., Mehta, D.P., Michels, V.V. J. Pediatr. (1999) [Pubmed]
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