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Showing results 2 to 5 of 5
| Full Text | Issue Date | Title | Author(s) | | 2005 | Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts. | Schwab, M.A.; Kolker, S.; Heuvel, L.P.W.J. van den, 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., et al |
| 2004 | Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF. | Wolf, N.I.; Willemsen, M.A.A.P.; Engelke, U.F.H., et al |
| 2009 | Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. | Lugtenberg, D.; Kleefstra, T.; Oudakker, A.R., et al |
Showing results 2 to 5 of 5
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