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Browsing by Author Schaftingen, E. van
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| Full Text | Issue Date | Title | Author(s) | | 2010 | IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. | Kranendijk, M.; Struys, E.A.; Schaftingen, E. van; Gibson, K.M.; Kanhai, W.A., et al |
| 1997 | Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins | Jaeken, J.; Artigas, J.; Barone, R.; Fiumara, A.; Koning, T.J., et al |
Showing results 1 to 2 of 2
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