N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism
Engelke, Udo F.H, Liebrand-van Sambeek, Maria L.F, de Jong, Jan G.N, Leroy, Jules G, Morava, Eva, Smeitink, Jan A.M, Wevers, Ron A
Published in Clinical chemistry (Baltimore, Md.) (01.01.2004)
Published in Clinical chemistry (Baltimore, Md.) (01.01.2004)
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Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome
WILLEMSEN, Michèl A. A. P, IJLST, Lodewijk, STEIJLEN, Peter M, ROTTEVEEL, Jan J, DE JONG, Jan G. N, VAN DOMBURG, Peter H. M. F, MAYATEPEK, Ertan, GABREËLS, Fons J. M, WANDERS, Ronald J. A
Published in Brain (London, England : 1878) (01.07.2001)
Published in Brain (London, England : 1878) (01.07.2001)
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Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases
Asfaw, Befekadu, Ledvinová, Jana, Dobrovolńy, Robert, Bakker, Henk D, Desnick, Robert J, van Diggelen, Otto P, de Jong, Jan G N, Kanzaki, Tamotsu, Chabas, Amparo, Maire, Irene, Conzelmann, Ernst, Schindler, Detlev
Published in Journal of lipid research (01.07.2002)
Published in Journal of lipid research (01.07.2002)
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Late‐Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome
Van Hove, Johan L.K., Wevers, Ron A., Van Cleemput, Johan, Moerman, Philippe, Sciot, Raf, Matthijs, Gert, Schollen, Els, de Jong, Jan G.N., Carey, William F., Muller, Viv, Nicholls, Cath, Perkins, Kelly, Hopwood, John J.
Published in American journal of medical genetics. Part A (01.05.2003)
Published in American journal of medical genetics. Part A (01.05.2003)
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Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase
RUITENBEEK, Wim, KOBAYASHI, Keiko, WEVERS, Ron A, LIJIMA, Mikio, SMEITINK, Jan A. M, ENGELKE, Udo F. H, DE ABREU, Ronney A, KWAST, Hanneke T, SAHEKI, Takeyori, BOELEN, Carolien A, DE JONG, Jan G. N
Published in Annals of clinical biochemistry (01.01.2003)
Published in Annals of clinical biochemistry (01.01.2003)
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Journal Article
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren–Larsson syndrome
Willemsen, Michèl A. A. P., IJlst, Lodewijk, Steijlen, Peter M., Rotteveel, Jan J., de Jong, Jan G. N., van Domburg, Peter H. M. F., Mayatepek, Ertan, Gabreëls, Fons J. M., Wanders, Ronald J. A.
Published in Brain (London, England : 1878) (01.07.2001)
Published in Brain (London, England : 1878) (01.07.2001)
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Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study
Moolenaar, Sytske H, Poggi-Bach, Jo, Engelke, Udo F.H, Corstiaensen, Jacqueline M.B, Heerschap, Arend, de Jong, Jan G.N, Binzak, Barbara A, Vockley, Jerry, Wevers, Ron A
Published in Clinical chemistry (Baltimore, Md.) (01.04.1999)
Published in Clinical chemistry (Baltimore, Md.) (01.04.1999)
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Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome
JIRA, P. E, DE JONG, J. G. N, JANSSEN-ZIJLSTRA, F. S. M, WENDEL, U, WEVERS, R. A
Published in Clinical chemistry (Baltimore, Md.) (1997)
Published in Clinical chemistry (Baltimore, Md.) (1997)
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Conference Proceeding
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Defective metabolism of leukotriene B4 in the Sjögren-Larsson Syndrome
WILLEMSEN, Michèl A. A. P, ROTTEVEEL, Jan J, DE JONG, Jan G. N, WANDERS, Ronald J. A, IJLST, Lodewijk, HOFFMANN, Georg F, MAYATEPEK, Ertan
Published in Journal of the neurological sciences (15.01.2001)
Published in Journal of the neurological sciences (15.01.2001)
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Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant
Luyten, J A, Wenink, P W, Steenbergen-Spanjers, G C, Wevers, R A, Ploos van Amstel, H K, de Jong, J G, van den Heuvel, L P
Published in Human genetics (01.09.1995)
Published in Human genetics (01.09.1995)
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1H-NMR spectroscopy of body fluids : Inborn errors of purine and pyrimidine metabolism
WEVERS, R. A, ENGELKE, U. F. H, MOOLENAAR, S. H, BRÄUTIGAM, C, DE JONG, J. G. N, DURAN, R, DE ABREU, R. A, VAN GENNIP, A. H
Published in Clinical chemistry (Baltimore, Md.) (01.04.1999)
Published in Clinical chemistry (Baltimore, Md.) (01.04.1999)
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