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Issue Date	Title	Author(s)
2011	Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability	Mencarelli, M.A.; Tassini, M.; Pollazzon, M.; Vivi, A.; Calderisi, M.; Falco, M.; Fichera, M.; Monti, L.; Buoni, S.; Mari, F.; Engelke, U.F.H.; Wevers, R.A.; Hayek, J.; Renieri, A.
2010	Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.	Engelke, U.F.H.; Zijlstra, F.S.M.; Mochel, F.; Valayannopoulos, V.; Rabier, D.; Kluijtmans, L.A.J.; Perl, A.; Verhoeven-Duif, N.M.; Lonlay, P. de; Wamelink, M.M.; Jakobs, C.; Morava, E.; Wevers, R.A.
2010	In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.	Henneke, M.; Dreha-Kulaczewski, S.; Brockmann, K.; Graaf, M. van der; Willemsen, M.H.; Engelke, U.F.H.; Dechent, P.; Heerschap, A.; Helms, G.; Wevers, R.A.; Gartner, J.
2010	[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case.	Tassini, M.; Zannolli, R.; Buoni, S.; Engelke, U.F.H.; Vivi, A.; Valensin, G.; Salomons, G.S.; Nicola, A. De; Strambi, M.; Monti, L.; Morava, E.; Wevers, R.A.; Hayek, J.
2010	Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.	Mochel, F.; Engelke, U.F.H.; Barritault, J.; Yang, B.; McNeill, N.H.; Thompson, J.N.; Vanderver, A.; Wolf, N.I.; Willemsen, M.A.A.P.; Verheijen, F.W.; Seguin, F.; Wevers, R.A.; Schiffmann, R.
2010	Ovarian cyst fluid of serous ovarian tumors contains large quantities of the brain amino acid N-acetylaspartate.	Kolwijck, E.; Wevers, R.A.; Engelke, U.F.H.; Woudenberg, J.; Bulten, J.; Blom, H.J.; Massuger, L.F.A.G.
2010	3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.	Wortmann, S.B.; Kremer, H.P.H.; Graham, A.; Willemsen, M.H.; Loupatty, F.J.; Hogg, S.L.; Engelke, U.F.H.; Kluijtmans, L.A.J.; Wanders, R.J.; Illsinger, S.; Wilcken, B.; Cruysberg, J.R.M.; Das, A.M.; Morava, E.; Wevers, R.A.
2009	Cerebellar Ataxia and Elevated Cerebrospinal Free Sialic Acid	Mochel, F.; Sedel, F.; Vanderver, A.; Engelke, U.F.H.; Yang, B.Z.; Smits, B.W.; Verheijen, F.W.; Seguin, F.; Brice, A.; Vanier, M.T.; Huizing, M.; Schiffmann, R.; Durr, A.; Wevers, R.A.
2009	Sedoheptulokinase deficiency due to a 57-KB deletion in cystinosis patients causes accumulation of sedoheptulose: elucidation of the function of the carkl gene	Wamelink, M.M.; Struys, E.A.; Jansen, E.E.W.; Zijlstra, F.S.M.; Engelke, U.F.H.; Blom, H.J.; Wevers, R.A.; Jakobs, C.; Levtchenko, E.N.
2009	Free sialic acid storage disease without sialuria.	Mochel, F.; Yang, B.; Barritault, J.; Thompson, J.N.; Engelke, U.F.H.; McNeill, N.H.; Benko, W.S.; Kaneski, C.R.; Adams, D.R.; Tsokos, M.; Abu-Asab, M.; Huizing, M.; Seguin, F.; Wevers, R.A.; Ding, J.; Verheijen, F.W.; Schiffmann, R.
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	Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).	Mochel, F.; Sedel, F.; Vanderver, A.; Engelke, U.F.H.; Barritault, J.; Yang, B.Z.; Kulkarni, B.; Adams, D.R.; Clot, F.; Ding, J.H.; Kaneski, C.R.; Verheijen, F.W.; Smits, B.W.; Seguin, F.; Brice, A.; Vanier, M.T.; Huizing, M.; Schiffmann, R.; Durr, A.; 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.
2009	N-acetyl resonances in in vivo and in vitro NMR spectroscopy of cystic ovarian tumors.	Kolwijck, E.; Engelke, U.F.H.; Graaf, M. van der; Heerschap, A.; Blom, H.J.; Hadfoune, M.; Buurman, W.A.; Massuger, L.F.A.G.; Wevers, R.A.
2008	NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.	Engelke, U.F.H.; Sass, J.O.; Coster, R.N. van; Gerlo, E.; Olbrich, H.; Krywawych, S.; Calvin, J.; Hart, C.; Omran, H.; Wevers, R.A.
2007	NMR spectroscopy of body fluids : a metabolomics approach to inborn errors of metabolism	Engelke, Udo Franziskus Heinrich
2006	Hypoacetylaspartia: clinical and biochemical follow-up of a patient	Burlina, A.P.; Schmitt, B.; Engelke, U.F.H.; Wevers, R.A.; Burlina, A.B.; Boltshauser, E.
2006	Methylsulfonylmethane (MSM) Ingestion Causes a Significant Resonance in Proton Magnetic Resonance Spectra of Brain and Cerebrospinal Fluid.	Willemsen, M.A.A.P.; Engelke, U.F.H.; Graaf, M. van der; Wevers, R.A.
2006	Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.	Wortmann, S.; Rodenburg, R.J.T.; Huizing, M.; Loupatty, F.J.; Koning, T. de; Kluijtmans, L.A.J.; Engelke, U.F.H.; Wevers, R.A.; Smeitink, J.A.M.; Morava, E.
2006	Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.	Oostendorp, M. van; Engelke, U.F.H.; Willemsen, M.A.A.P.; Wevers, R.A.
2006	NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.	Engelke, U.F.H.; Kremer, H.P.H.; Kluijtmans, L.A.J.; Graaf, M. van der; Morava, E.; Loupatty, F.J.; Wanders, R.J.A.; Moskau, D.; Loss, S.; Bergh, E. van den; Wevers, R.A.
2006	Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.	Sass, J.O.; Mohr, V.; Olbrich, H.; Engelke, U.F.H.; Horvath, J.; Fliegauf, M.; Loges, N.T.; Schweitzer-Krantz, S.; Moebus, R.; Weiler, P.; Kispert, A.; Superti-Furga, A.; Wevers, R.A.; Omran, H.
2005	Aminoacylase I deficiency: a novel inborn error of metabolism.	Coster, R. van; Gerlo, E.A.; Giardina, T.G.; Engelke, U.F.H.; Smet, J.E.; Praeter, C.M. de; Meersschaut, V.A.; Meirleir, L. de; Seneca, S.; Devreese, B.; Leroy, J.G.; Herga, S.; Perrier, J.P.; Wevers, R.A.; Lissens, W.
2005	Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR.	Engelke, U.F.H.; Tangerman, A.; Willemsen, M.A.A.P.; Moskau, D.; Loss, S.; Mudd, S.H.; Wevers, R.A.
2004	Follow-up of a child with hypoacetylaspartia.	Boltshauser, E.; Schmitt, B.; Wevers, R.A.; Engelke, U.F.H.; Burlina, A.B.; Burlina, A.P.
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.; Wevers, R.A.; Engelke, U.F.H.; Rating, D.
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.; Harting, I.; Zschocke, J.; Sistermans, E.A.; Rating, D.; Wevers, R.A.
2004	N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.	Engelke, U.F.H.; Liebrand-van Sambeek, M.L.F.; Jong, J.G.N. de; Leroy, J.G.; Morava, E.; Smeitink, J.A.M.; Wevers, R.A.
2004	High-resolution 1H NMR spectroscopy of amniotic fluids from spina bifida fetuses and controls.	Groenen, P.; Engelke, U.F.H.; Wevers, R.A.; Hendriks, J.C.M.; Eskes, T.K.A.B.; Merkus, J.M.W.M.; Steegers-Theunissen, R.P.M.
1997	1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimide metabolism.	Wevers, R.A.; Engelke, U.F.H.; Rotteveel, J.J.; Heerschap, A.; Jong, J.W. de; Abeling, N.G.G.M.; Gennip, A.H. van; Abreu, R.A. de
1997	1hnmr spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism	Wevers, R.A.; Engelke, U.F.H.; Rotteveel, J.J.; Heerschap, A.; Jong, J.G.N. de; Abeling, N.G.G.M.; Gennip, A.H. van; Abreu, R.A. de
1996	1H-NMR Spectroscopy in Body Fluids and Leucocytes: a view on Metabolism	Wevers, R.A.; Engelke, U.F.H.; Abeling, N.G.G.M.; Abreu, R.A. de; Berg, G.B. van de; Heerschap, A.
1995	A standarized method for high resolution 1 H NMR spectroscopy of cerebrospinal fluid for neurometabolic studies	Wevers, R.A.; Engelke, U.F.H.; Wendel, U.A.H.
1995	Diagnosis of a new case of trimethylaminuria using direct proton NMR analysis of urine	Abeling, N.G.G.M.; Gennip, A.H. van; Bakker, H.; Heerschap, A.; Engelke, U.F.H.; Wevers, R.A.
1995	Diagnosis of a new case of trimethylaminuria using direct proton NMR spectrocopy of urine	Abeling, A.; Gennip, A.H. van; Bakker, H.; Heerschap, A.; Engelke, U.F.H.; Wevers, R.A.
1995	A standarized method for high resolution 1 H NMR spectroscopy of cerbrospinal fluid for neurometabolic studies	Wevers, R.A.; Engelke, U.F.H.; Wendel, U.A.H.; Gabreëls, F.J.M.; Heerschap, A.
1995	Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine	Abeling, N.G.G.M.; Gennip, A.H. van; Bakker, H.; Heerschap, A.; Engelke, U.F.H.; Wevers, R.A.
1995	Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.	Wevers, R.A.; Engelke, U.F.H.; Wendel, U.A.H.; Jong, J.G.N. de; Gabreëls, F.J.M.; Heerschap, A.
1995	Sample choice and sample preparation for 1H-NMR spectroscopy for diagnosing inborn errors of metabolism.	Wevers, R.A.; Engelke, U.F.H.; Heerschap, A.
1995	Standardized method for high-resolution 1H-NMR of cerebrospinal fluid	Wevers, R.A.; Engelke, U.F.H.; Wendel, U.A.H.; Jong, J.G.N. de; Gabreëls, F.J.M.; Heerschap, A.
1995	1H-NMR spectroscopie in lichaamsvloeistoffen en leucocyten	Wevers, R.A.; Engelke, U.F.H.; Abeling, N.G.G.M.; Abreu, R.A. de; Berg, G.B. van de; Heerschap, A.