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Full Text	Issue Date	Title	Author(s)
	2009	Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.	Engelke, U.F.H.; Tassini, M.; Hayek, J.; Vries, M. de; Bilos, A.; Vivi, A.; Valensin, G.; Buoni, S.; Zannolli, R.; Brussel, W.; Kremer, H.P.H.; Salomons, G.S.; Veendrick-Meekes, M.J.; Kluijtmans, L.A.J.; Morava, E.; Wevers, R.A.
	2009	Autosomal recessive cutis laxa syndrome revisited.	Morava, E.; Guillard, M.; Lefeber, D.J.; Wevers, R.A.
	2009	Decreased bone density and treatment in patients with autosomal recessive cutis laxa.	Noordam, C.; Funke, S.; Slobbe-Knoers, V.V.A.M.; Jira, P.E.; Wevers, R.A.; Urban, Z.; Morava, E.
	2009	Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry.	Guillard, M.; Gloerich, J.; Wessels, H.J.; Morava, E.; Wevers, R.A.; Lefeber, D.J.
	2009	Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.	Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D.J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E.C.; Abuelo, D.N.; Adamowicz, M.; Al-Aama, J.Y.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M.T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Turkmen, S.; Tuysuz, B.; Yuksel-Konuk, B.; Mundlos, S.; Maldergem, L. van; Wevers, R.A.; Urban, Z.
	2009	Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.	Lefeber, D.J.; Schonberger, J.; Morava, E.; Guillard, M.; Huyben, C.M.L.C.; Verrijp, K.; Grafakou, O.; Evangeliou, A.; Preijers, F.W.M.B.; Manta, P.; Yildiz, J.; Grunewald, S.; Spilioti, M.; Elzen, C. van den; Klein, D.; Hess, D.; Ashida, H.; Hofsteenge, J.; Maeda, Y.; Heuvel, L.P.W.J. van den; Lammens, M.M.Y.; Lehle, L.; Wevers, R.A.
	2009	Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.	Wortmann, S.B.; Rodenburg, R.J.T.; Jonckheere, A.I.; Vries, M.C. de; Huizing, M.; Heldt, K.; Heuvel, L.P.W.J. van den; Wendel, U.A.H.; Kluijtmans, L.A.J.; Engelke, U.F.H.; Wevers, R.A.; Smeitink, J.A.M.; Morava, E.
	2008	Major depression in adolescent children consecutively diagnosed with mithochondrial disorder	Koene, S.; Kozicz, L.T.; Rodenburg, R.J.T.; Verhaak, C.M.; Vries, M.C. de; Heuvel, L. van de; Smeitink, J.A.M.; Morava, E.
	2008	Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.	Koene, S.; Kluijtmans, L.A.J.; Wevers, R.A.; Mock, D.; Pasch, M.; Morava, E.
	2008	Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.	Contopoulos-Ioannidis, D.; Evangeliou, A.; Laak, H. ter; Vries, B. de; Pfundt, R.P.; Scheffer, H.; Smeitink, J.A.M.; Tzoufi, M.; Makis, A.; Marinos, E.; Hess, R.; Adams, D.; Huizing, M.; Morava, E.

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