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  1. 2018

  2. Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy

    van Rappard, D. F., de Vries, A. L. C., Oostrom, K. J., Boelens, J. J., Hollak, C. E. M., van der Knaap, M. S. & Wolf, N. I., 2018, In: Journal of the American Academy of Child and Adolescent Psychiatry. 57, 2, p. 74-76

    Research output: Contribution to journal › Editorial › Academic › peer-review

  3. 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., 2018, In: Molecular genetics and metabolism. 125, 1-2, p. 96-103

    Research output: Contribution to journal › Article › Academic › peer-review

  4. The role of the clinician in the multi-omics era: are you ready?

    van Karnebeek, C. D. M., Wortmann, S. B., Tarailo-Graovac, M., Langeveld, M., Ferreira, C. R., van de Kamp, J. M., Hollak, C. E., Wasserman, W. W., Waterham, H. R., Wevers, R. A., Haack, T. B., Wanders, R. J. A. & Boycott, K. M., 2018, In: Journal of inherited metabolic disease. 41, 3, p. 571-582

    Research output: Contribution to journal › Article › Academic › peer-review

  5. 2017

  6. Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria

    Boot, E., Hollak, C. E. M., Huijbregts, S. C. J., Jahja, R., van Vliet, D., Nederveen, A. J., Nieman, D. H., Bosch, A. M., Bour, L. J., Bakermans, A. J., Abeling, N. G. G. M., Bassett, A. S., van Amelsvoort, T. A. M. J., van Spronsen, F. J. & Booij, J., 2017, In: Psychological medicine. 47, 16, p. 2854-2865

    Research output: Contribution to journal › Article › Academic › peer-review

  7. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

    Arends, M., Wanner, C., Hughes, D., Mehta, A., Oder, D., Watkinson, O. T., Elliott, P. M., Linthorst, G. E., Wijburg, F. A., Biegstraaten, M. & Hollak, C. E., 2017, In: Journal of the American Society of Nephrology. 28, 5, p. 1631-1641

    Research output: Contribution to journal › Article › Academic › peer-review

  8. Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study

    Jahja, R., Huijbregts, S. C. J., de Sonneville, L. M. J., van der Meere, J. J., Legemaat, A. M., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., Hofstede, F. C., de Vries, M. C., Janssen, M. C. H., van der Ploeg, A. T., Langendonk, J. G. & van Spronsen, F. J., 2017, In: Neuropsychology. 31, 4, p. 437-447

    Research output: Contribution to journal › Article › Academic › peer-review

  9. Factors Contributing to the Efficacy-Effectiveness Gap in the Case of Orphan Drugs for Metabolic Diseases

    Schuller, Y., Hollak, C. E. M., Gispen-de Wied, C. C., Stoyanova-Beninska, V. & Biegstraaten, M., 2017, In: Drugs. 77, 13, p. 1461-1472

    Research output: Contribution to journal › Article › Academic › peer-review

  10. Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease

    Arends, M., Wijburg, F. A., Wanner, C., Vaz, F. M., van Kuilenburg, A. B. P., Hughes, D. A., Biegstraaten, M., Mehta, A., Hollak, C. E. M. & Langeveld, M., 2017, In: Molecular genetics and metabolism. 121, 2, p. 157-161

    Research output: Contribution to journal › Article › Academic › peer-review

  11. Fertility in adult women with classic galactosemia and primary ovarian insufficiency

    van Erven, B., Berry, G. T., Cassiman, D., Connolly, G., Forga, M., Gautschi, M., Gubbels, C. S., Hollak, C. E. M., Janssen, M. C., Knerr, I., Labrune, P., Langendonk, J. G., Õunap, K., Thijs, A., Vos, R., Wortmann, S. B. & Rubio-Gozalbo, M. E., 2017, In: Fertility and sterility. 108, 1, p. 168-174

    Research output: Contribution to journal › Article › Academic › peer-review

  12. Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment

    Regenboog, M., Bohte, A. E., Akkerman, E. M., Stoker, J. & Hollak, C. E. M., 2017, In: British journal of haematology. 179, 4, p. 635-647

    Research output: Contribution to journal › Article › Academic › peer-review

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