A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

T J de Koning, L Dorland, O P van Diggelen, A M Boonman, G J de Jong, W L van Noort, J De Schryver, M Duran, I E van den Berg, G J Gerwig, R Berger, B T Poll-The

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Biochemistry, Genetics and Molecular Biology

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