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  1. 2021

  2. Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation

    Coene, K. L. M., Timmer, C., Goorden, S. M. I., ten Hoedt, A. E., Kluijtmans, L. A. J., Janssen, M. C. H., Rennings, A. J. M., Prinsen, H. C. M. T., Wamelink, M. M. C., Ruijter, G. J. G., Körver-Keularts, I. M. L. W., Heiner-Fokkema, M. R., van Spronsen, F. J., Hollak, C. E., Vaz, F. M., Bosch, A. M. & Huigen, M. C. D. G., 1 Mar 2021, In: JIMD reports. 58, 1, p. 70-79 10 p.

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

  3. Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products

    Sirrs, S. M., Arthus, M-F., Bichet, D. G., Rockman-Greenberg, C., LeMoine, K., Morel, C. F., Lachmann, R., Lynd, L. D., Wasim, S., West, M. L. & Hollak, C., Feb 2021, In: Value in health. 24, 2, p. 268-273 6 p.

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

  4. Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

    Eskes, E. C. B., van der Lienden, M. J. C., Roelofs, J. J. T. H., Vogt, L., Aerts, J. M. F. G., Aten, J. & Hollak, C. E. M., 2021, In: JIMD reports. 62, 1, p. 15-21 7 p.

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

  5. 2020

  6. Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome

    Welsink-Karssies, M. M., Schrantee, A., Caan, M. W. A., Hollak, C. E. M., Janssen, M. C. H., Oussoren, E., de Vries, M. C., Roosendaal, S. D., Engelen, M. & Bosch, A. M., Dec 2020, In: Molecular genetics and metabolism. 131, 4, p. 370-379 10 p.

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

  7. Erratum: Classical galactosemia: Neuropsychological and psychosocial functioning beyond intellectual abilities (Orphanet Journal of Rare Diseases (2020) 15 (42) DOI: 10.1186/s13023-019-1277-0)

    Welsink-Karssies, M. M., Oostrom, K. J., Hermans, M. E., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Oussoren, E., Rubio Gozalbo, M. E., de Vries, M., Geurtsen, G. J. & Bosch, A. M., 7 Sep 2020, In: Orphanet journal of rare diseases. 15, 1, p. 238 1 p., 238.

    Research output: Contribution to journal › Erratum/Corrigendum › Academic

  8. Registries for orphan drugs: generating evidence or marketing tools?

    Hollak, C. E. M., Sirrs, S., van den Berg, S., van der Wel, V., Langeveld, M., Dekker, H., Lachmann, R. & de Visser, S. J., 3 Sep 2020, In: Orphanet journal of rare diseases. 15, 1, p. 235 235.

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

  9. Cognitive functioning and depressive symptoms in Fabry disease: a follow-up study

    Körver, S., Geurtsen, G. J., Hollak, C. E. M., van Schaik, I. N., Longo, M. G. F., Lima, M. R., Dijkgraaf, M. G. W. & Langeveld, M., 1 Sep 2020, In: Journal of inherited metabolic disease. 43, 5, p. 1070-1081 12 p.

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

  10. Developments in the treatment of Fabry disease

    van der Veen, S. J., Hollak, C. E. M., van Kuilenburg, A. B. P. & Langeveld, M., 1 Sep 2020, In: Journal of inherited metabolic disease. 43, 5, p. 908-921 14 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

  11. Predicting the development of anti-drug antibodies against recombinant alpha-galactosidase a in male patients with classical fabry disease

    van der Veen, S. J., Vlietstra, W. J., van Dussen, L., van Kuilenburg, A. B. P., Dijkgraaf, M. G. W., Lenders, M., Brand, E., Wanner, C., Hughes, D., Elliott, P. M., Hollak, C. E. M. & Langeveld, M., 2 Aug 2020, In: International journal of molecular sciences. 21, 16, 14 p., 5784.

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

  12. Determinants of cerebral radiological progression in Fabry disease

    Körver, S., Longo, M. G. F., Lima, M. R., Hollak, C. E. M., el Sayed, M., van Schaik, I. N., Vedolin, L., Dijkgraaf, M. G. W. & Langeveld, M., 1 Jul 2020, In: Journal of Neurology, Neurosurgery and Psychiatry. 91, 7, p. 756-763 8 p.

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

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