dr. M.R. (Rebecca) Heiner-Fokkema

Clinical chemist, inborn errors metabolism

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m.r.heiner umcg.nl


  1. 2020
  2. Laeremans, H., Turner, C., Andersson, T., de Juan, J. A. C., Gerrard, A., Heiner-Fokkema, M. R., Herebian, D., Janzen, N., la Marca, G., & Rudebeck, M. (2020). Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples. Journal of Inherited Metabolic Disorders, 53(1), 90-102. https://doi.org/10.1002/jmd2.12112
  3. 2019
  4. Care4Rare Canada Consortium, Johnstone, D. L., Al-Shekaili, H. H., Tarailo-Graovac, M., Wolf, N. I., Ivy, A. S., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C. W. T., Kernohan, K. D., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R. A., Koul, R., Al Futaisi, A., ... Boycott, K. M. (2019). PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain, 142, 542-559. https://doi.org/10.1093/brain/awy346
  5. 2018
  6. van Spronsen, F. J., Himmelreich, N., Rufenacht, V., Shen, N., van Vliet, D., Al-Owain, M., Ramzan, K., Alkhalifi, S. M., Lunsing, R. J., Heiner-Fokkema, R. M., Rassi, A., Gemperle-Britschgi, C., Hoffmann, G. F., Blau, N., & Thony, B. (2018). Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: From attention deficit to severe dystonia and intellectual disability. JOURNAL OF MEDICAL GENETICS, 55(4), 249-253. https://doi.org/10.1136/jmedgenet-2017-104875
  7. Gil, A., Zhang, W., Wolters, J., Permentier, H., Horvatovich, P., Heiner Fokkema, M. R., Reijngoud, D., & Bischoff, R. (2018). Omics Technology: Lipidomics and its pitfalls during the pre-analytical stage. In Reference Module in Chemistry, Molecular Sciences and Chemical Engineering (3 ed., Vol. 8, pp. 70-81). (Encyclopedia of Analytical Science; Vol. 8). Elsevier. https://doi.org/10.1016/B978-0-12-409547-2.14002-8
  8. 2017
  9. van Egmond, M. E., Lugtenberg, C. H. A., Brouwer, O. F., Contarino, M. F., Fung, V. S. C., Heiner-Fokkema, M. R., van Hilten, J. J., van der Hout, A. H., Peall, K. J., Sinke, R. J., Roze, E., Verschuuren-Bemelmans, C. C., Willemsen, M. A., Wolf, N. I., Tijssen, M. A., & de Koning, T. J. (2017). A Post Hoc Study on Gene Panel Analysis for the Diagnosis of Dystonia. Movement Disorders, 32(4), 569-575. https://doi.org/10.1002/mds.26937
  10. van Dam, E., Daly, A., Venema-Liefaard, G., van Rijn, M., Derks, T. G. J., McKiernan, P. J., Heiner-Fokkema, R., MacDonald, A., & van Spronsen, F. J. (2017). What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients? In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (pp. 49-57). (Journal of Inherited Metabolic Disorders; Vol. 36). Springer. https://doi.org/10.1007/8904_2016_37
  11. 2016
  12. Heiner-Fokkema, M. R., Vaz, F. M., Maatman, R., Kluijtmans, L. A. J., Spronsen, van, F., & Reijngoud, D-J. (2016). Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (Vol. 32, pp. 33-39). (JIMD Reports; Vol. 32). Springer Berlin Heidelberg. https://doi.org/10.1007/8904_2016_564
  13. Sala, P. R., Ruijter, G., Acquaviva, C., Chabli, A., de Sain-van der Velden, M. G. M., Garcia-Villoria, J., Heiner-Fokkema, M. R., Jeannesson-Thivisol, E., Leckstrom, K., Franzson, L., Lynes, G., Olesen, J., Onkenhout, W., Petrou, P., Drousiotou, A., Ribes, A., Vianey-Saban, C., & Merinero, B. (2016). Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (pp. 23-31). (Journal of Inherited Metabolic Disorders; Vol. 30). Springer. https://doi.org/10.1007/8904_2016_533
  14. Hoogeveen, I. J., van der Ende, R. M., van Spronsen, F. J., de Boer, F., Heiner-Fokkema, R., & Derks, T. G. J. (2016). Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (Vol. 28, pp. 41-47). (Journal of Inherited Metabolic Disorders; Vol. 28). Springer. https://doi.org/10.1007/8904_2015_511
  15. 2015
  16. van Vliet, D., van Dam, E., van Rijn, M., Derks, T. G. J., Venema-Liefaard, G., Hitzert, M. M., Lunsing, R. J., Heiner-Fokkema, M. R., & van Spronsen, F. J. (2015). Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? In J. Zschocke, M. Baumgartner, E. Morava, M. Patterson, & S. Rahman (Eds.), JIMD Reports (pp. 117-124). (Journal of Inherited Metabolic Disorders; Vol. 18). Springer. https://doi.org/10.1007/8904_2014_358
  17. 2014
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