Molecular Genetics and Metabolism, 1096-7192

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  1. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Muntau, A. C., Adams, D. J., Belanger-Quintana, A., Bushueva, T. V., Cerone, R., Chien, Y-H., Chiesa, A., Coskun, T., de las Heras, J., Feillet, F., Katz, R., Lagler, F., Piazzon, F., Rohr, F., van Spronsen, F. J., Vargas, P., Wilcox, G. & Bhattacharya, K., May-2019, In : Molecular Genetics and Metabolism. 127, 1, p. 1-11 11 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment

    Vockley, J., Dobrowolski, S. F., Arnold, G. L., Guerrero, R. B., Derks, T. G. J. & Weinstein, D. A., 19-Jul-2019, In : Molecular Genetics and Metabolism. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 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

  4. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

    Huijbregts, S. C. J., Bosch, A. M., Simons, Q. A., Jahja, R., Brouwers, M. C. G. J., De Sonneville, L. M. J., De Vries, M. C., Hofstede, F. C., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Rubio-Gozalbo, M. E., Van der Meere, J. J., Van der Ploeg, A. T. & Van Spronsen, F. J., Sep-2018, In : Molecular Genetics and Metabolism. 125, 1-2, p. 96-103 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Anthropomorphic measurements and nutritional biomarkers after 5 years of BH4 treatment in phenylketonuria patients

    Evers, R. A. F., van Wegberg, A. M. J., van Dam, E., de Vries, M. C., Janssen, M. C. H. & van Spronsen, F. J., Aug-2018, In : Molecular Genetics and Metabolism. 124, 4, p. 238-242 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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