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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Bibliographic reference Jaeken, J ; Matthijs, G ; Saudubray, J M ; Dionisi-Vici, C ; Bertini, E ; et. al. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.. In: American Journal of Human Genetics, Vol. 62, no.6, p. 1535-9 (1998)
Permanent URL http://hdl.handle.net/2078.1/131974