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Full Text	Issue Date	Title	Author(s)
	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.
	2008	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.	Kornak, U.; Reynders, E.; Dimopoulou, A.; Reeuwijk, J. van; Fischer, B.; Rajab, A.; Budde, B.; Nurnberg, P.; Foulquier, F.; Lefeber, D.; Urban, Z.; Gruenewald, S.; Annaert, W.; Brunner, H.G.; Bokhoven, H. van; Wevers, R.A.; Morava, E.; Matthijs, G.; Maldergem, L. van; Mundlos, S.
	2008	Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.	Morava, E.; Lefeber, D.J.; Urban, Z.; Meirleir, L. de; Meinecke, P.; Kaesbach, G. Gillessen; Sykut-Cegielska, J.; Adamowicz, M.; Salafsky, I.; Ranells, J.; Lemyre, E.; Reeuwijk, J. van; Brunner, H.G.; Wevers, R.A.
	2008	Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.	Monnier, N.; Marty, I.; Faure, J.; Castiglioni, C.; Desnuelle, C.; Sacconi, S.; Estournet, B.; Ferreiro, A.; Romero, N.; Laquerriere, A.; Lazaro, L.; Martin, J.J.; Morava, E.; Rossi, A.; Kooi, A. van der; Visser, M. de; Verschuuren, C.; Lunardi, J.
	2008	Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.	Janssen, A.J.; Schuelke, M.; Smeitink, J.A.M.; Trijbels, F.J.; Sengers, R.C.; Lucke, B.; Wintjes, L.T.; Morava, E.; Engelen, B.G.M. van; Smits, B.W.; Hol, F.A.; Siers, M.H.; Laak, H. ter; Knaap, M.S. van der; Spronsen, F.J. van; Rodenburg, R.J.; Heuvel, L.P.v.d.
	2008	Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.	Zwickler, T.; Lindner, M.; Aydin, H.I.; Baumgartner, M.R.; Bodamer, O.A.; Burlina, A.B.; Das, A.M.; DeKlerk, J.B.; Gokcay, G.; Grunewald, S.; Guffon, N.; Maier, E.M.; Morava, E.; Geb, S.; Schwahn, B.; Walter, J.H.; Wendel, U.; Wijburg, F.A.; Muller, E.; Kolker, S.; Horster, F.

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