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Full Text	Issue Date	Title	Author(s)
	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.; Nillesen, W.M.; Yntema, H.G., et al
	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; Sauer, S.; Wolf, N.I., 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.; Knaap, M.S. van der; Pouwels, P.J., 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
	1997	Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency : diagnostic tools for a new inborn error of metabolism	Schulze, A.; Hess, T.; Wevers, R.; Mayatepek, E.; Bachert, P., et al