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Jorgen Bierau

20102020

Research output per year

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Research Output

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

Haskovic, M., Coelho, A. I., Bierau, J., Vanoevelen, J. M., Steinbusch, L. K. M., Zimmermann, L. J. I., Villamor-Martinez, E., Berry, G. T. & Rubio-Gozalbo, M. E., May 2020, In : Journal of Inherited Metabolic Disease. 43, 3, p. 392-408 17 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., De Laet, C., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Bierau, J., van Hasselt, P. M., Gissen, P., Goyens, P. J., McKiernan, P. J., Wilcox, G., Morris, A. A. M., Jameson, E. A. & 2 others, Huijbregts, S. C. J. & van Spronsen, F. J., 4 Dec 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 9 p., 285.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time

Coenen, M. J. H., Paulussen, A. D. C., Breuer, M., Lindhout, M., Tserpelis, D. C. J., Steyls, A., Bierau, J. & van den Bosch, B. J. C., 2019, In : Current Therapeutic Research-Clinical and Experimental. 90, p. 1-7 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation

Monostori, P., Klinke, G., Hauke, J., Richter, S., Bierau, J., Garbade, S. F., Hoffmann, G. F., Langhans, C-D., Haas, D. & Okun, J. G., 28 Feb 2019, In : PLOS ONE. 14, 2, 17 p., 0212458.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access