The past and presence of gene targeting: from chemicals and DNA via proteins to RNA von Geel, T. M., Ruiters, M. H. J., Cool, R. H., Halby, L., Voshart, D. C., Andrade Ruiz, L., Niezen-Koning, K. E., Arimondo, P. B., Rots, M. G.

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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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Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency von Derks, T. G. J., Boer, T. S., van Assen, A., Bos, T., Ruiter, J., Waterham, H. R., Niezen-Koning, K. E., Wanders, R. J. A., Rondeel, J. M. M., Loeber, J. G., ten Kate, L. P., Smit, G. P. A., Reijngoud, D.-J.

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Serotonergic perturbations in dystonia disorders-a systematic review von Smit, M, Bartels, A L, van Faassen, M, Kuiper, A, Niezen-Koning, K E, Kema, I P, Dierckx, R A, de Koning, T J, Tijssen, M A

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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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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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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern von Mohamed, M., Guillard, M., Wortmann, S.B., Cirak, S., Marklova, E., Michelakakis, H., Korsch, E., Adamowicz, M., Koletzko, B., van Spronsen, F.J., Niezen-Koning, K.E., Matthijs, G., Gardeitchik, T., Kouwenberg, D., Lim, B. Chan, Zeevaert, R., Wevers, R.A., Lefeber, D.J., Morava, E.

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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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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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External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study von Ruijter, G. J. G., Boer, M., Weykamp, C. W., De Vries, R., Berg, I., Janssens‐Puister, J., Niezen‐Koning, K., Wevers, R. A., Poorthuis, B. J. H. M., Diggelen, O. P.

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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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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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Muscular glycogen storage diseases without increased glycogen content on histopathological examination von Hoeksma, M., den Dunnen, W.F.A., Niezen-Koning, K.E., van Diggelen, O.P., van Spronsen, F.J.

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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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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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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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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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Detection of variants in SLC6A8 and functional analysis of unclassified missense variants von Betsalel, Ofir T., Pop, Ana, Rosenberg, Efraim H., Fernandez-Ojeda, Matilde, Jakobs, Cornelis, Salomons, Gajja S.

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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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