Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients von Hollak, C.E.M., de Sonnaville, E.S.V., Cassiman, D., Linthorst, G.E., Groener, J.E., Morava, E., Wevers, R.A., Mannens, M., Aerts, J.M.F.G., Meersseman, W., Akkerman, E., Niezen-Koning, K.E., Mulder, M.F., Visser, G., Wijburg, F.A., Lefeber, D., Poorthuis, B.J.H.M.

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The frequency of lysosomal storage diseases in The Netherlands von Poorthuis, B.J.H.M., Wevers, R.A., Kleijer, W.J., Groener, J.E.M., de Jong, J.G.N., van Weely, S., Niezen-Koning, K.E., van Diggelen, O.P.

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Pompe disease: Current state of treatment modalities and animal models von Geel, T.M., McLaughlin, P.M.J., de Leij, L.F.M.H., Ruiters, M.H.J., Niezen-Koning, K.E.

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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency von VAN KUILENBURG, A. B. P, VREKEN, P, CHRISTENSEN, E, HOLOPAINEN, I, PULKKI, K, RIVA, D, BOTTEON, G, HOLME, E, TULINIUS, M, KLEIJER, W. J, BEEMER, F. A, DURAN, M, ABELING, N. G. G. M, NIEZEN-KONING, K. E, SMIT, G. P. A, JAKOBS, C, SMIT, L. M. E, MOOG, U, SPAAPEN, L. J. M, VAN GENNIP, A. H, BAKKER, H. D, MEINSMA, R, VAN LENTHE, H, DE ABREU, R. A, SMEITINK, J. A. M, KAYSERILI, H, APAK, M. Y

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Increased plasma carnitine concentrations in preeclampsia von THIELE, Ingrit G. I, NIEZEN-KONING, Klary E, VAN GENNIP, Albert H, AARNOUDSE, Jan G

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Pre‐eclampsia in a woman whose child suffered from lethal carnitine‐acylcarnitine translocase deficiency von Geven, WB, Niezen‐Koning, KE, Timmer, A, Van Loon, AJ, Wanders, RJA, Van Spronsen, FJ

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Ventricular Fibrillation Without Overt Cardiomyopathy as First Presentation of Organic Cation Transporter 2‐Deficiency in Adolescence von RIJLAARSDAM, RENSKE S., SPRONSEN, FRANCJAN J. VAN, BINK‐BOELKENS, MARGREET TH.E., REIJNGOUD, DIRK‐JAN, WANDERS, RONALD J.A., NIEZEN‐KONING, KLARY E., VAN DER SLUIJS, FJODOR H., DORLAND, BERT, BEAUFORT‐KROL, GERTIE C.M.

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Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT): Cloning of the Human SCOT Gene, Tertiary Structural Modeling of the Human SCOT Monomer, and Characterization of Three Pathogenic Mut... von Fukao, Toshiyuki, Mitchell, Grant A., Song, Xiang-Qian, Nakamura, Haruki, Kassovska-Bratinova, Sacha, Orii, Kenji E., Wraith, James E., Besley, Guy, Wanders, Ronald J.A., Niezen-Koning, Klary E., Berry, Gerard T., Palmieri, Michael, Kondo, Naomi

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Partial hypoxanthine–guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion von van Dael, C.M.L., Pierik, L.J.W.M., Reijngoud, D.J., Niezen-Koning, K.E., van Diggelen, O.P., van Spronsen, F.J.

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Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart von RAKE, J. P, TEN BERGE, A. M, VISSER, G, VERLIND, E, NIEZEN-KONING, K. E, BUYS, C. H. C. M, SMIT, G. P. A, SCHEFFER, H

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3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father von VISSER, Gepke, SUORMALA, Terttu, SMIT, G. Peter A, REIJNGOUD, Dirk-Jan, BINK-BOELKENS, Margreet Th. E, NIEZEN-KONING, Klary E, BAUMGARTNER, E. Regula

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End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency : no contra-indication for liver transplantation von RAKE, J. P, VAN SPRONSEN, F. J, NIEZEN-KONING, K. E, SMIT, G. P. A, VISSER, G, RUITENBEEK, W, SCHWEIZER, J. J, BIJLEVELD, C. M. A, PEETERS, P. M. J. G, DE JONG, K. P, SLOOFF, M. J. H, REIJNGOUD, D.-J

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A Fatal, Systemic Mitochondrial Disease with Decreased Mitochondrial Enzyme Activities, Abnormal Ultrastructure of the Mitochondria and Deficiency of Heat Shock Protein 60 von Agsteribbe, E., Huckriede, A., Veenhuis, M., Ruiters, M.H.J., Niezenkoning, K.E., Skjeldal, O.H., Skullerud, K., Gupta, R.S., Hallberg, R., Vandiggelen, O.P., Scholte, H.R.

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Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c von Visser, G., Herwig, J., Rake, J. P., Niezen‐Koning, K. E., Verhoeven, A. J., Smit, G. P. A.

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A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency von Niezen‐Koning, K. E., Spronsen, F. J., Ijlst, L., Wanders, R. J. A., Brivet, M., Duran, M., Reijngoud, D. J., Heymans, H. S. A., Smit, G. P. A.

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Case report: Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency von WB Geven, KE Niezen-Koning, A Timmer, AJ van Loon, RJA Wanders, FJ van Spronsen

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Type IIIb glycogen storage disease associated with end‐stage cirrhosis and hepatocellular carcinoma von Haagsma, E B, Smit, G P, Niezen‐Koning, K E, Gouw, A S, Meerman, L, Slooff, M J

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Succinyl-CoA :acetoacetate transferase deficiency : identification of a new patient with a neonatal onset and review of the literature von NIEZEN-KONING, K. E, WANDERS, R. J. A, RUITER, J. P. N, IJLST, L, VISSER, G, REITSMA-BIERENS, W. C. C, HEYMANS, H. S. A, REIJNGOUD, D. J, SMIT, G. P. A

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Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acy... von Niezen-Koning, Klary E., Wanders, Ronald J.A., Nagel, Gijs T., Sewell, Adrian C., Heymans, Hugo S.A.

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Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry von Niezen-Koning, K.E., Chapman, T.E., Mulder, I.E., Smit, G.P.A., reijngoud, D.J., Berger, R.

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