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Browsing by Author Klepper, J.
Showing results 1 to 5 of 5
| Full Text | Issue Date | Title | Author(s) | | 2010 | Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. | Leen, W.G.; Klepper, J.; Verbeek, M.M.; Leferink, M.; Hofste, T., et al |
| 2007 | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | Rice, G.; Patrick, T.; Parmar, R.; Taylor, C.F.; Aeby, A., et al |
| 2007 | GLUT1 deficiency with delayed myelination responding to ketogenic diet. | Klepper, J.; Engelbrecht, V.; Scheffer, H.; Knaap, M.S. van der; Fiedler, A. |
| 2006 | Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. | Crow, Y.J.; Hayward, B.E.; Parmar, R.; Robins, P.; Leitch, A., et al |
| 2005 | Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. | Klepper, J.; Scheffer, H.; Leiendecker, B.; Gertsen, E.; Binder, S., et al |
Showing results 1 to 5 of 5
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