Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics von Tabatabaie, L, de Koning, T.J, Geboers, A.J.J.M, van den Berg, I.E.T, Berger, R, Klomp, L.W.J

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Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect von Bliksrud, Y T, Brodtkorb, E, Andresen, P A, van den Berg, I E T, Kvittingen, E A

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Recurrent nonimmune hydrops fetalis associated with carbohydrate‐deficient glycoprotein syndrome von Koning, T. J., Toet, M., Dorland, L., Vries, L. S., Berg, I. E. T., Duran, M., Poll‐The, B. T.

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Hereditary tyrosinemia type 1 : novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene ; variability of the genotype-phenotype rela... von PLOOS VAN AMSTEL, J. K, BERGMAN, A. J. I. W, VAN BEURDEN, E. A. C. M, ROIJERS, J. F. M, PEELEN, T, VAN DEN BERG, I. E. T, POOL-THE, B. T, KVITTIGEN, E. A, BERGER, R

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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion von Clayton, P T, Eaton, S, Aynsley-Green, A, Edginton, M, Hussain, K, Krywawych, S, Datta, V, Malingre, H E, Berger, R, van den Berg, I E

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Phosphorylase b kinase deficiency in man: a review von Berg, I. E. T., Berger, R.

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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency von de Koning, TJ, Klomp, LWJ, van Oppen, ACC, Beemer, FA, Dorland, L, van den Berg, IET, Berger, R

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Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process von Langereis, E. J., van den Berg, I. E. T., Halley, D. J. J., Poorthuis, B. J. H. M., Vaz, F. M., Wokke, J. H. J., Linthorst, G. E.

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X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase α subunit von VAN DEN BERG, I. E. T, VAN BEURDEN, E. A. C. M, MALINGRE, H. E. M, PLOOS VAN AMSTEL, H. K, BWEE TIEN POLL-THE, SMEITINK, J. A. M, LAMERS, W. H, BERGER, R

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Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis von Klomp, Leo W.J., de Koning, Tom J., Malingré, Helga E.M., van Beurden, Ellen A.C.M., Brink, Miny, Opdam, Frans L., Duran, Marinus, Jaeken, Jaak, Pineda, Merce, van Maldergem, Lionel, Poll-The, Bwee Tien, van den Berg, Inge E.T., Berger, Ruud

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A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency von de Koning, T.J., Dorland, L., van Diggelen, O.P., Boonman, A.M.C., de Jong, G.J., van Noort, W.L., De Schryver, Jear, Duran, M., van den Berg, I.E.T., Gerwig, G.J., Berger, R., Poll-The, B.T.

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Prenatal diagnosis of type I hereditary tyrosinaemia von Ploos van Amstel, J.K., Jansen, R.P.M., Verjaal, M., van den Berg, I.E.T., Berger, R.

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Screening and prostate cancer mortality: results of the European Randomised Study of Screening for Prostate Cancer (ERSPC) at 13 years of follow-up von Schröder, Fritz H, Prof, Hugosson, Jonas, Prof, Roobol, Monique J, PhD, Tammela, Teuvo L J, Prof, Zappa, Marco, MD, Nelen, Vera, MD, Kwiatkowski, Maciej, MD, Lujan, Marcos, MD, Määttänen, Liisa, PhD, Lilja, Hans, Prof, Denis, Louis J, Prof, Recker, Franz, Prof, Paez, Alvaro, MD, Bangma, Chris H, Prof, Carlsson, Sigrid, MD, Puliti, Donella, MSc, Villers, Arnauld, MD, Rebillard, Xavier, MD, Hakama, Matti, Prof, Stenman, Ulf-Hakan, Prof, Kujala, Paula, MD, Taari, Kimmo, MD, Aus, Gunnar, MD, Huber, Andreas, Prof, van der Kwast, Theo H, Prof, van Schaik, Ron H N, Prof, de Koning, Harry J, Prof, Moss, Sue M, Prof, Auvinen, Anssi, Prof

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Prostate-Cancer Mortality at 11 Years of Follow-up von Schröder, Fritz H, Hugosson, Jonas, Roobol, Monique J, Tammela, Teuvo L.J, Ciatto, Stefano, Nelen, Vera, Kwiatkowski, Maciej, Lujan, Marcos, Lilja, Hans, Zappa, Marco, Denis, Louis J, Recker, Franz, Páez, Alvaro, Määttänen, Liisa, Bangma, Chris H, Aus, Gunnar, Carlsson, Sigrid, Villers, Arnauld, Rebillard, Xavier, van der Kwast, Theodorus, Kujala, Paula M, Blijenberg, Bert G, Stenman, Ulf-Hakan, Huber, Andreas, Taari, Kimmo, Hakama, Matti, Moss, Sue M, de Koning, Harry J, Auvinen, Anssi

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Uncovering risk factors for kidney injury in children with a solitary functioning kidney von Groen in ‘t Woud, Sander, Roeleveld, Nel, Westland, Rik, Renkema, Kirsten Y., Steffens, Martijn G., Gracchi, Valentina, Lilien, Marc R., van Wijk, Joanna A.E., Feitz, Wout F.J., Schreuder, Michiel F., van der Zanden, Loes F.M., Beeren, M.C.G., Blokland-Loggers, H.E., Breukels, M., van den Broek, L.M., del Canho, R., Creemers, D., van Dael, C.M.L., van der Deure, H., Dings-Lammertink, A., Dorrepaal, C., Dorresteijn, E., Feitz, W.F.J., Gracchi, V., Groen in ‘t Woud, S., Harnisch, E., Jacobs, M.J., Jira, P.E., Keijzer-Veen, M.G., Kloosterman, F.J., Knots, E., Konijnenberg, A.Y., Koppejan-Stapel, M., van der Kuur, E.C., van Ledden-Klok, M.J., Leunissen, R.W.J., Lilien, M.R., Jansen, C. Meine, de Moor, R., Nijhuis, I.J.M., Pierik, L.J.W.M., Pijning, A., de Pont, S.M.H.B., Renkema, K.Y., Rijlaarsdam, R., Roeleveld, N., van Rooij, R.W.G., Schreuder, M.F., Semmekrot, B., Steffens, M.G., Tanja, A.L., Westland, R., van Wijk, J.A.E., Wijnands - van den Berg, E., van der Zanden, L.F.M., Zegers, B.

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Screening and Prostate-Cancer Mortality in a Randomized European Study von Schröder, Fritz H, Hugosson, Jonas, Roobol, Monique J, Tammela, Teuvo L.J, Ciatto, Stefano, Nelen, Vera, Kwiatkowski, Maciej, Lujan, Marcos, Lilja, Hans, Zappa, Marco, Denis, Louis J, Recker, Franz, Berenguer, Antonio, Määttänen, Liisa, Bangma, Chris H, Aus, Gunnar, Villers, Arnauld, Rebillard, Xavier, van der Kwast, Theodorus, Blijenberg, Bert G, Moss, Sue M, de Koning, Harry J, Auvinen, Anssi

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Results of a randomized trial in children with Acute Myeloid Leukaemia: Medical Research Council AML12 trial von Gibson, Brenda E. S., Webb, David K. H., Howman, Andrew J., De Graaf, Siebold S. N., Harrison, Christine J., Wheatley, Keith

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Progress toward standardized diagnosis of vascular cognitive impairment: Guidelines from the Vascular Impairment of Cognition Classification Consensus Study von Black, Sandra E., Chen, Christopher, DeCarli, Charles, Erkinjuntti, Timo, Ford, Gary A., Kalaria, Rajesh N., Pantoni, Leonardo, Roman, Gustavo C., Wallin, Anders, Skoog, Ingmar, Kril, J., Cavalieri, M., Jellinger, K.A., Engelborghs, S., Lafosse, C., Bertolucci, P.H., Caramelli, P., Kirk, A., Leach, L., Robillard, A., Sahlas, D.J., Guo, Q., Tian, J., Jokinen, H., Benisty, S., Tsatali, M., Tsolaki, M., Coen, R.F., Altieri, M., Baldereschi, M., Caravaglios, G., Di Carlo, A., Galluzzi, S., Logroscino, G., Moretti, D.V., Padovani, A., Ihara, M., Mizuno, T., Kim, S.Y., Akinyemi, R., Baiyewu, O., Ogunniyi, A., Szczudlik, A., Firmino, H., Massano, J., Verdelho, A., Kruglov, L.S., Ikram, M.K., Kandiah, N., Arana, E., Barroso-Ribal, J., Cruz-Jentoft, A.J., Martinez-Lage, P., Mataro, M., Englund, E., Laukka, E.J., Qiu, C., Viitanen, M., Biessels, G.J., de Leeuw, F.-E., den Heijer, T., Exalto, L.G., Kappelle, L.J., Prins, N.D., Richard, E., van den Berg, E., Bilgic, B., Allan, L.M., Archer, J., Attems, J., Brayne, C., Bullock, R., Farrant, A., Ince, P.G., Langhorne, P., Mayer, P., Pendlebury, S.T., Perneczky, R., Smithard, D., Stephan, B.C., Todd, S., Werring, D.J., Wilcock, G., Au, R., Bozoki, A., Crane, P.K., Diniz, B.S., Etcher, L., Hurt, S.W., Lamar, M., Ott, B.R., Perry, G., Powers, W.J., Romero, J.R., Saykin, A.J., Seshadri, S., Silbert, L., Ben-Shlomo, Yoav, Passmore, Anthony P., Kehoe, Patrick G.

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A 4 year follow-up study of cognitive functioning in patients with type 2 diabetes mellitus von van den Berg, E., Reijmer, Y. D., de Bresser, J., Kessels, R. P. C., Kappelle, L. J., Biessels, G. J.

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Accuracy of Pulse Oximetry Screening for Critical Congenital Heart Defects after Home Birth and Early Postnatal Discharge von Narayen, Ilona C., Blom, Nico A., van Geloven, Nan, Blankman, Ellen I.M., van den Broek, Annique J.M., Bruijn, Martijn, Clur, Sally-Ann B., van den Dungen, Frank A., Havers, Hester M., van Laerhoven, Henriëtte, Mir, Shahryar E., Muller, Moira A., Polak, Odette M., Rammeloo, Lukas A.J., Ramnath, Gracita, van der Schoor, Sophie R.D., van Kaam, Anton H., te Pas, Arjan B., van den Akker, E.S.A., van den Berg, E., de Boer, M.A., Bouwmeester, S., van Dorp, M.C., de Graaf, I.M., Haak, M.C., Hermsen, B.B.J., Hummel, P., Kok, B., Medema, T.J., Mérelle, M.E., Mooren, G.C.A.H.C.N., Onland, W., Pernet, P.J., von Rosenstiel, I.A., Schrijver-Levie, N., Six, S., Williams, J.M.

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