51 - 60 out of 340Page size: 10
  1. 2019

  2. Saposin C is a frequent target of paraproteins in Gaucher disease-associated MGUS/multiple myeloma

    Preuss, K-D., Hollak, C. E. M., Fadle, N., van Oers, M., Regitz, E. & Pfreundschuh, M., 2019, In: British journal of haematology. 184, 3, p. 384-391

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

  3. The need for additional care in patients with classical galactosaemia

    Welling, L., Meester-Delver, A., Derks, T. G., Janssen, M. C. H., Hollak, C. E. M., de Vries, M. & Bosch, A. M., 2019, In: Disability and rehabilitation. 41, 22, p. 2663-2668

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

  4. ‘Whole exome sequencing’ en ‘whole genome sequencing’ bij ziekte zonder diagnose

    Linthorst, G. E. & Hollak, C. E. M., 2019, In: Nederlands tijdschrift voor geneeskunde. 163

    Research output: Contribution to journal › Article › Professional

  5. 2018

  6. Editorial

    Lachmann, R. & Hollak, C., 3 Sep 2018, In: Journal of inherited metabolic disease. 41, 5, p. 899-900 2 p.

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

  7. Adaptive pathway development for Fabry disease: a clinical approach

    Schuller, Y., Arends, M., Körver, S., Langeveld, M. & Hollak, C. E. M., 2018, In: Drug discovery today. 23, 6, p. 1251-1257

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

  8. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

    Arends, M., Biegstraaten, M., Wanner, C., Sirrs, S., Mehta, A., Elliott, P. M., Oder, D., Watkinson, O. T., Bichet, D. G., Khan, A., Iwanochko, M., Vaz, F. M., van Kuilenburg, A. B. P., West, M. L., Hughes, D. A. & Hollak, C. E. M., 2018, In: Journal of medical genetics. 55, p. 351-358

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

  9. Bone health in patients with inborn errors of metabolism

    Langeveld, M. & Hollak, C. E. M., 2018, In: Reviews in endocrine & metabolic disorders. 19, 1, p. 81-92

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

  10. Can untreated PKU patients escape from intellectual disability? A systematic review

    van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Blau, N., Bulut, F. D., Casas, K., Didycz, B., Djordjevic, M., Federico, A., Feillet, F., Gizewska, M., Gramer, G., Hertecant, J. L., Hollak, C. E. M., Jørgensen, J. V., Karall, D., Landau, Y., Leuzzi, V., Mathisen, P., & 15 othersMoseley, K., Mungan, N. Ö., Nardecchia, F., Õunap, K., Powell, K. K., Ramachandran, R., Rutsch, F., Setoodeh, A., Stojiljkovic, M., Trefz, F. K., Usurelu, N., Wilson, C., van Karnebeek, C. D., Hanley, W. B. & van Spronsen, F. J., 2018, In: Orphanet journal of rare diseases. 13, 1, 149.

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

  11. Classifying the additional morbidities of Gaucher disease

    Langeveld, M., Elstein, D., Szer, J., Hollak, C. E. M. & Zimran, A., 2018, In: Blood cells, molecules & diseases. 68, p. 209-210

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

  12. Development and clinical consequences of white matter lesions in Fabry disease: a systematic review

    Körver, S., Vergouwe, M., Hollak, C. E. M., van Schaik, I. N. & Langeveld, M., 2018, In: Molecular genetics and metabolism. 125, 3, p. 205-216

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

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