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Browsing by Author Salomons, G.S.
Showing results 7 to 11 of 11
| Full Text | Issue Date | Title | Author(s) | | 2004 | High prevalence of SLC6A8 deficiency in X-linked mental retardation. | Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Grauw, R.S. de; Yntema, H.G., et al |
| 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 |
| 2007 | An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). | Salomons, G.S.; Bok, L.A.; Struys, E.A.; Pope, L.L.; Darmin, P.S., et al |
| 2005 | Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. | Kleefstra, T.; Rosenberg, E.H.; Salomons, G.S.; Stroink, H.; Bokhoven, J.H.L.M. van, et al |
| 2004 | Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency. | Wolf, N.I.; Haas, D.; Hoffmann, G.F.; Jakobs, C.; Salomons, G.S., et al |
Showing results 7 to 11 of 11
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