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Browsing by Author Schaftingen, E. van

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Full TextIssue DateTitleAuthor(s)
2010IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.Kranendijk, M.; Struys, E.A.; Schaftingen, E. van; Gibson, K.M.; Kanhai, W.A., et al
1997Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrinsJaeken, J.; Artigas, J.; Barone, R.; Fiumara, A.; Koning, T.J., et al
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