Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
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Published in Human genetics (01.01.1999)
Published in Human genetics (01.01.1999)
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Perioperative hyperinsulinaemic normoglycaemic clamp causes hypolipidaemia after coronary artery surgery
Zuurbier, C. J., Hoek, F. J., van Dijk, J., Abeling, N. G., Meijers, J. C. M., Levels, J. H. M., de Jonge, E., de Mol, B. A., Van Wezel, H. B.
Published in British journal of anaesthesia : BJA (01.04.2008)
Published in British journal of anaesthesia : BJA (01.04.2008)
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Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria
Boot, E., Hollak, C. E. M., Huijbregts, S. C. J., Jahja, R., van Vliet, D., Nederveen, A. J., Nieman, D. H., Bosch, A. M., Bour, L. J., Bakermans, A. J., Abeling, N. G. G. M., Bassett, A. S., van Amelsvoort, T. A. M. J., van Spronsen, F. J., Booij, J.
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Published in Psychological medicine (01.12.2017)
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3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients
Verly, I.R.N., van Kuilenburg, A.B.P., Abeling, N.G.G.M., Goorden, S.M.I., Fiocco, M., Vaz, F.M., van Noesel, M.M., Zwaan, C.M., Kaspers, G.J.L., Merks, J.H.M., Caron, H.N., Tytgat, G.A.M.
Published in European journal of cancer (1990) (01.02.2018)
Published in European journal of cancer (1990) (01.02.2018)
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An aetiological study of 25 mentally retarded adults with autism
van Karnebeek, C D M, van Gelderen, I, Nijhof, G J, Abeling, N G, Vreken, P, Redeker, E J, van Eeghen, A M, Hoovers, J M N, Hennekam, R C M
Published in Journal of medical genetics (01.03.2002)
Published in Journal of medical genetics (01.03.2002)
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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation
Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.
Published in Molecular genetics and metabolism reports (01.03.2016)
Published in Molecular genetics and metabolism reports (01.03.2016)
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Tyrosine hydroxylase deficiency unresponsive to L‐dopa treatment with unusual clinical and biochemical presentation
De Lonlay, P., Nassogne, M. C., Gennip, A. H., Cruchten, A. C., Billette de Villemeur, T., Cretz, M., Stoll, C., Launay, J. M., Steenberger‐Spante, G. C. V., Heuvel, L. P. W., Wevers, R. A., Saudubray, J. M., Abeling, N. G. G. M.
Published in Journal of inherited metabolic disease (01.12.2000)
Published in Journal of inherited metabolic disease (01.12.2000)
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Pathobiochemical implications of hyperdopaminuria in patients with aromatic L‐amino acid decarboxylase deficiency
Abeling, N. G. G. M., Bräutigam, C., Hoffmann, G. F., Barth, P. G., Wevers, R. A., Jaeken, J., Fiumara, A., Knust, A., Gennip, A. H.
Published in Journal of inherited metabolic disease (01.06.2000)
Published in Journal of inherited metabolic disease (01.06.2000)
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Aromatic L‐amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings
Abeling, N. G. G. M., Gennip, A. H., Barth, P. G., Cruchten, A., Westra, M., Wijburg, F. A.
Published in Journal of inherited metabolic disease (01.06.1998)
Published in Journal of inherited metabolic disease (01.06.1998)
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Molecular and clinical characterization of a Moroccan Cog7 deficient patient
Ng, Bobby G., Kranz, Christian, Hagebeuk, E.E.O., Duran, M., Abeling, N.G.G.M., Wuyts, B., Ungar, Daniel, Lupashin, Vladimir, Hartdorff, C.M., Poll-The, B.T., Freeze, Hudson H.
Published in Molecular genetics and metabolism (01.06.2007)
Published in Molecular genetics and metabolism (01.06.2007)
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A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly
Lee, Jun Hwa, van Kuilenburg, André B. P., Abeling, N. G. G. M., Vasta, Valeria, Hahn, Si Houn
Published in JIMD Reports, Volume 19 (01.01.2015)
Published in JIMD Reports, Volume 19 (01.01.2015)
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Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency
Abeling, N. G. G. M., Gennip, A. H., Blom, H., Wevers, R. A., Vreken, P., Tinteren, H. L. G., Bakker, H. D.
Published in Journal of inherited metabolic disease (01.05.1999)
Published in Journal of inherited metabolic disease (01.05.1999)
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Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine
Moolenaar, S. H., Engelke, U. F. H., Abeling, N. G. G. M., Mandel, H., Duran, M., Wevers, R. A.
Published in Journal of inherited metabolic disease (01.12.2001)
Published in Journal of inherited metabolic disease (01.12.2001)
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Normal kynurenine metabolism in 2‐oxoadipic aciduria
Sewell, A. C., Herwig, J., Böhles, H., Abeling, N. G. G. M., Gennip, A. H.
Published in Journal of inherited metabolic disease (01.12.1999)
Published in Journal of inherited metabolic disease (01.12.1999)
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Fatty acids and homocysteine levels in patients with recurrent depression: an explorative pilot study
Assies, J, Lok, A, Bockting, C.L, Weverling, G.J, Lieverse, R, Visser, I, Abeling, N.G.G.M, Duran, M, Schene, A.H
Published in Prostaglandins, leukotrienes and essential fatty acids (01.04.2004)
Published in Prostaglandins, leukotrienes and essential fatty acids (01.04.2004)
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A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria
Bikker, H., Bakker, H.D., Abeling, N.G.G.M., Poll-The, B.T., Kleijer, W.J., Rosenblatt, D.S., Waterham, H.R., Wanders, R.J.A., Duran, M.
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation
Van Kuilenburg, A. B. P., Vreken, P., Riva, D., Botteon, G., Abeling, N. G. G. M., Bakker, H. D., Van Gennip, A. H.
Published in Journal of inherited metabolic disease (01.04.1999)
Published in Journal of inherited metabolic disease (01.04.1999)
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Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions
Slot, H M, Overweg-Plandsoen, W C, Bakker, H D, Abeling, N G, Tamminga, P, Barth, P G, Van Gennip, A H
Published in Neuropediatrics (01.06.1993)
Published in Neuropediatrics (01.06.1993)
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X-linked borderline mental retardation with prominent behavioral disturbance : phenotype, genetic localization, and evidence for disturbed monoamine metabolism
BRUNNER, H. G, NELEN, M. R, VAN ZANDVOORT, P, ABELING, N. G. G. M, VAN GENNIP, A. H, WOLTERS, E. C, KUIPER, M. A, ROPERS, H. H, VAN OOST, B. A
Published in American journal of human genetics (01.06.1993)
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Published in American journal of human genetics (01.06.1993)
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