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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
2019

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

Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity

Peltenburg, N. C., Bierau, J., Schippers, J. A., Lowe, S. H., Paulussen, A. D. C., van den Bosch, B. J. C., Leers, M. P. G., Andrinopoulou, E-R., Bakker, J. A. & Verbon, A., Jan 2019, In : Journal of Antimicrobial Chemotherapy. 74, 1, p. 157-164 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer

Zurlo, G., Liu, X., Takada, M., Fan, C., Simon, J. M., Ptacek, T. S., Rodriguez, J., von Kriegsheim, A., Liu, J., Locasale, J. W., Robinson, A., Zhang, J., Holler, J. M., Kim, B., Zikanova, M., Bierau, J., Xie, L., Chen, X., Li, M., Perou, C. M. & 1 others, Zhang, Q., 15 Nov 2019, In : Nature Communications. 10, 15 p., 5177.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Haskovic, M., Derks, B., van der Ploeg, L., Trommelen, J., Nyakayiru, J., van Loon, L. J. C., Mackinnon, S., Yue, W. W., Peake, R. W. A., Zha, L., Demirbas, D., Qi, W., Huang, X., Berry, G. T., Achten, J., Bierau, J., Rubio-Gozalbo, M. E. & Coelho, A. I., 26 Nov 2018, In : Orphanet Journal of Rare Diseases. 13, 8 p., 212.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV

Peltenburg, N. C., Bierau, J., Bakker, J. A., Schippers, J. A., Lowe, S. H., Paulussen, A. D. C., van den Bosch, B. J. C., Leers, M. P. G., Hansen, B. E. & Verbon, A., 12 Jan 2018, In : PLOS ONE. 13, 1, 14 p., e0191069.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

Korver-Keularts, I. M. L. W., Wang, P., Waterval, H. W. A. H., Kluijtmans, L. A. J., Wevers, R. A., Langhans, C-D., Scott, C., Habets, D. D. J. & Bierau, J., May 2018, In : Journal of Inherited Metabolic Disease. 41, 3, p. 415-424 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Impaired fertility and motor function in a zebrafish model for classic galactosemia

Vanoevelen, J. M., van Erven, B., Bierau, J., Huang, X., Berry, G. T., Vos, R., Coelho, A. I. & Rubio-Gozalbo, M. E., 1 Jan 2018, In : Journal of Inherited Metabolic Disease. 41, 1, p. 117-127 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Persistent metabolic changes in HIV-infected patients during the first year of combination antiretroviral therapy

Peltenburg, N. C., Schoeman, J. C., Hou, J., Mora, F., Harms, A. C., Lowe, S. H., Bierau, J., Bakker, J. A., Verbon, A., Hankemeier, T. & Boonstra, A., 16 Nov 2018, In : Scientific Reports. 8, 11 p., 16947.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Protein content and amino acid composition of commercially available plant-based protein isolates

Gorissen, S. H. M., Crombag, J. J. R., Senden, J. M. G., Waterval, W. A. H., Bierau, J., Verdijk, L. B. & van Loon, L. J. C., Dec 2018, In : Amino Acids. 50, 12, p. 1685-1695 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2017

Associations of plasma uric acid and purine metabolites with blood pressure in children: the KOALA Birth Cohort Study

Scheepers, L. E. J. M., Boonen, A., Pijnenburg, W., Bierau, J., Staessen, J. A., Stehouwer, C. D. A., Thijs, C. & Arts, I. C. W., May 2017, In : Journal of Hypertension. 35, 5, p. 982-993 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

CAD mutations and uridine-responsive epileptic encephalopathy

Koch, J., Mayr, J. A., Alhaddad, B., Rauscher, C., Bierau, J., Kovacs-Nagy, R., Coene, K. L. M., Bader, I., Holzhacker, M., Prokisch, H., Venselaar, H., Wevers, R. A., Distelmaier, F., Polster, T., Leiz, S., Betzler, C., Strom, T. M., Sperl, W., Meitinger, T., Wortmann, S. B. & 1 others, Haack, T. B., Feb 2017, In : Brain. 140, p. 279-286 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model

Coelho, A. I., Bierau, J., Lindhout, M., Achten, J., Kramer, B. W. & Rubio-Gozalbo, M. E., Sep 2017, In : The Anatomical Record: advances in integrative anatomy and evolutionary biology. 300, 9, p. 1570-1575 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Hellebrekers, D. M., Sallevelt, S. C. E. H., Theunissen, T. E. J., Hendrickx, A. T. M., Gottschalk, R. W., Hoeijmakers, J. G. J., Habets, D. D., Bierau, J., Schoonderwoerd, K. G. & Smeets, H. J. M., Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 886-888 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

Nutrients required for phospholipid synthesis are lower in blood and cerebrospinal fluid in mild cognitive impairment and Alzheimer's disease dementia

van Wijk, N., Slot, R. E. R., Duits, F. H., Strik, M., Biesheuvel, E., Sijben, J. W. C., Blankenstein, M. A., Bierau, J., van der Flier, W. M., Scheltens, P. & Teunissen, C. E., 2017, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 8, p. 139-146 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

Riemersma, M., Hazebroek, M. R., Helderman-van den Enden, A. T. J. M., Salomons, G. S., Ferdinandusse, S., Brouwers, M. C. G. J., van der Ploeg, L., Heymans, S., Glatz, J. F. C., van den Wijngaard, A., Krapels, I. P. C., Bierau, J. & Brunner, H. G., Nov 2017, In : European Journal of Human Genetics. 25, 11, p. 1195-1201 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The hypoxanthine-xanthine oxidase axis is not involved in the initial phase of clinical transplantation-related ischemia-reperfusion injury

Wijermars, L. G. M., Bakker, J. A., de Vries, D. K., van Noorden, C. J. F., Bierau, J., Kostidis, S., Mayboroda, O. A., Tsikas, D., Schaapherder, A. F. & Lindeman, J. H. N., 1 Mar 2017, In : American Journal of Physiology-Renal Physiology. 312, 3, p. F457-F464 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Defective postreperfusion metabolic recovery directly associates with incident delayed graft function

Wijermars, L. G. M., Schaapherder, A. F., de Vries, D. K., Verschuren, L., Wust, R. C. I., Kostidis, S., Mayboroda, O. A., Prins, F., Ringers, J., Bierau, J., Bakker, J. A., Kooistra, T. & Lindeman, J. H. N., Jul 2016, In : Kidney International. 90, 1, p. 181-191

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Increasing Insulin Availability Does Not Augment Postprandial Muscle Protein Synthesis Rates in Healthy Young and Older Men

Groen, B. B. L., Horstman, A. M. H., Hamer, H. M., de Haan, M., van Kranenburg, J., Bierau, J., Poeze - van Bokhoven, M., Wodzig, W. K. W. H., Rasmussen, B. B. & van Loon, L., Nov 2016, In : Journal of Clinical Endocrinology & Metabolism. 101, 11, p. 3978-3988

Research output: Contribution to journalArticleAcademicpeer-review

Ingestion of Wheat Protein Increases In Vivo Muscle Protein Synthesis Rates in Healthy Older Men in a Randomized Trial

Gorissen, S. H. M., Horstman, A. M. H., Franssen, R., Crombag, J. J. R., Langer, H., Bierau, J., Respondek, F. & van Loon, L., Sep 2016, In : Journal of Nutrition. 146, 9, p. 1651-1659

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy

Peltenburg, N. C., Leers, M. P. G., Bakker, J. A., Lowe, S. H., Vroemen, W. H. M., Paulussen, A. D. C., van den Bosch, B. J. C., Bierau, J. & Verbon, A., 1 Dec 2016, In : Jaids-journal of Acquired Immune Deficiency Syndromes. 73, 4, p. 390-395 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

2015

Inosine triphosphate pyrophosphohydrolase activity: more accurate predictor for ribavirin-induced anemia in hepatitis C infected patients than ITPA genotype

Peltenburg, N. C., Bakker, J. A., Vroemen, W. H. M., de Knegt, R. J., Leers, M. P. G., Bierau, J. & Verbon, A., Nov 2015, In : Clinical Chemistry and Laboratory Medicine. 53, 12, p. 2021-2029

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Kevelam, S. H., Bierau, J., Salvarinova, R., Agrawal, S., Honzik, T., Visser, D., Weiss, M. M., Salomons, G. S., Abbink, T. E. M., Waisfisz, Q. & van der Knaap, M. S., Oct 2015, In : Annals of Neurology. 78, 4, p. 649-658

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
2013

Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

Gubbels, C. S., Land, J. A., Evers, J. L. H., Bierau, J., Menheere, P. P. C. A., Robben, S. G. F. & Rubio-Gozalbo, M. E., Jan 2013, In : Journal of Inherited Metabolic Disease. 36, 1, p. 29-34

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
2012

A novel multiparameter flow cytometric assay for inosine triphosphatase expression analysis in leukocytes

Vroemen, W. H. M., Munnix, I. C. A., Bakker, J. A., Bierau, J., Huts, M. & Leers, M. P. G., Aug 2012, In : Cytometry Part A. 81A, 8, p. 672-678

Research output: Contribution to journalArticleAcademicpeer-review

Erythrocyte Inosine Triphosphatase Activity Is Decreased in HIV-Seropositive Individuals

Bierau, J., Bakker, J. A., Schippers, J. A., Grashorn, J. A. C., Lindhout, M., Lowe, S. H., Paulussen, A. D. C. & Verbon, A., 17 Jan 2012, In : PLOS ONE. 7, 1, e30175.

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Reduced renal plasma clearance does not explain increased plasma asymmetric dimethylarginine in hypertensive subjects with mild to moderate renal insufficiency

Ronden, R. A., Houben, A. J. H. M., Teerlink, T., Bakker, J. A., Bierau, J., Stehouwer, C. D. A., De Leeuw, P. W. & Kroon, A. A., Jul 2012, In : American Journal of Physiology-Renal Physiology. 303, 1, p. F149-F156

Research output: Contribution to journalArticleAcademicpeer-review

2011

Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD

Westermann, C. M., Dorland, L., van Diggelen, O. P., Schoonderwoerd, K., Bierau, J., Waterham, H. R. & van der Kolk, J. H., Nov 2011, In : Molecular Genetics and Metabolism. 104, 3, p. 273-278

Research output: Contribution to journalArticleAcademicpeer-review

THE EFFECT OF ITPA POLYMORPHISMS ON THE ENZYME KINETIC PROPERTIES OF HUMAN ERYTHROCYTE INOSINE TRIPHOSPHATASE TOWARD ITS SUBSTRATES ITP AND 6-THIO-ITP

Bakker, J. A., Lindhout, M., Habets, D. D. J., van den Wijngaard, A., Paulussen, A. D. C. & Bierau, J., 2011, In : Nucleosides Nucleotides & Nucleic Acids. 30, 11, p. 839-849

Research output: Contribution to journalArticleAcademicpeer-review

2010

Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

van Kuilenburg, A. B. P., Meijer, J., Gokcay, G., Baykal, T., Rubio-Gozalbo, M. E., Mul, A. N. P. M., de Die-Smulders, C. E. M., Weber, P., Mori, A. C., Bierau, J., Fowler, B., Macke, K., Sass, J. O., Meinsma, R., Hennermann, J. B., Miny, P., Zoetekouw, L., Roelofsen, J., Vijzelaar, R., Nicolai, J. & 1 others, Hennekam, R. C. M., 2010, In : Nucleosides Nucleotides & Nucleic Acids. 29, 4-6, p. 509-514

Research output: Contribution to journalArticleAcademicpeer-review

Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography

Lindhout, M., Rubio-Gozalbo, M. E., Bakker, J. A. & Bierau, J., 4 Jul 2010, In : Clinica Chimica Acta. 411, 13-14, p. 980-983

Research output: Contribution to journalArticleAcademicpeer-review