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

Clinical chemist, inborn errors metabolism

Research

Publications
  1. Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress

    van Rijt, W. J., van der Ende, R. M., Volker-Touw, C. M. L., van Spronsen, F., Derks, T. G. J. & Heiner-Fokkema, M. R., 28-Jun-2019, In : Molecular Genetics and Metabolism. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

    Care4Rare Canada Consortium, Mar-2019, In : Brain. 142, p. 542-559 18 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Effect of renal function on homeostasis of asymmetric dimethylarginine (ADMA): studies in donors and recipients of renal transplants

    Said, M. Y., Douwes, R. M., van Londen, M., Minović, I., Frenay, A-R., de Borst, M. H., van den Berg, E., Heiner-Fokkema, M. R., Kayacelebi, A. A., Bollenbach, A., van Goor, H., Navis, G., Tsikas, D. & Bakker, S. J. L., Mar-2019, In : Amino Acids. 51, 3, p. 565-575 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis

    Kingma, H. A., van der Sluijs, F. H. & Heiner-Fokkema, M. R., Nov-2018, In : Annals of Clinical Biochemistry. 55, 6, p. 693-701 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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