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Browsing Research Articles (University of Pretoria) by Author "Radcliffe, Graham"

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Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

Naoman, Kinza; Hendriksz, Christian J.; Radcliffe, Graham; Roncaroli, Federico; Moreea, Sulleman; Hussain, Afifah; Stepien, Karolina M. (Elsevier, 2020-12)

The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly ...

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