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

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Casein gene expression in bovine mammary gland von Choi, Y.J, Keller, W.L, Berg, I.E, Park, C.S, Mackinlay, A.G

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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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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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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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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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Toxicity of mixtures of parathion, toxaphene and/or 2,4-D in mice von Kuntz, D.J, Rao, N.G.S, Berg, I.E, Khattree, R, Chaturvedi, A.K

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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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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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Toxicological evaluation of the leachate from a closed urban landfill von RADI, L. M, KNUTZ, D. J, PADMANABHAN, G, BERG, I. E, CHATURVEDI, A. K

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Demographics and Monetary Policy Shocks von BERG, KIMBERLY A., CURTIS, CHADWICK C., LUGAUER, STEVEN, MARK, NELSON C.

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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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Influence of adrenalectomy on embryonic mortality in thermally stressed ewes von Tilton, J.E, Hoffman, R.H, Berg, I.E, Light, M.R, Buchanan, M.L

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Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries von Bergman, AJIW, van den Berg, IET, Brink, W, Poll-The, BT, Ploos van Amstel, JK, Berger, R

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Human Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase: Cloning and Characterization of the Coding Sequence von Vredendaal, Patrick J.C.M., van den Berg, Inge E.T., Malingré, Helga E.M., Stroobants, An K., OldeWeghuis, Danielle E.M., Berger, Ruud

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A mechanistic study on the amination of 2-chloro-3,5-dinitropyridine with liquid ammonia von De Bie, Dick A, Geurtsen, Bart, Berg, Iekje E, Van der Plas, Henk C

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