1. 2022
  2. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

    Schoenmakers, D. H., Beerepoot, S., van den Berg, S., Adang, L., Bley, A., Boelens, J-J., Fumagalli, F., Goettsch, W. G., Grønborg, S., Groeschel, S., van Hasselt, P. M., Hollak, C. E. M., Lindemans, C., Mochel, F., Mol, P. G. M., Sevin, C., Zerem, A., Schöls, L. & Wolf, N. I., 1 Dec 2022, In: Orphanet journal of rare diseases. 17, 1, 48.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study

    Eskes, E. C. B., Beishuizen, C. R. L., Corazolla, E. M., van Middelaar, T., Brands, M. M. M. G., Dekker, H., van de Mheen, E., Langeveld, M., Hollak, C. E. M. & Sjouke, B., 1 Dec 2022, In: Orphanet journal of rare diseases. 17, 1, 383.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Effectiveness and safety of mexiletine in patients at risk for (recurrent) ventricular arrhythmias: a systematic review

    van der Ree, M. H., van Dussen, L., Rosenberg, N., Stolwijk, N., van den Berg, S., van der Wel, V., Jacobs, B. A. W., Wilde, A. A. M., Hollak, C. E. M. & Postema, P. G., 22 Nov 2022, In: EP Europace. 24, 11, p. 1809-1823 15 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Clinical impact of the worldwide shortage of verteporfin (Visudyne®) on ophthalmic care

    Sirks, M. J., van Dijk, E. H. C., Rosenberg, N., Hollak, C. E. M., Aslanis, S., Cheung, C. M. G., Chowers, I., Eandi, C. M., Freund, K. B., Holz, F. G., Kaiser, P. K., Lotery, A. J., Ohno-Matsui, K., Querques, G., Subhi, Y., Tadayoni, R., Wykoff, C. C., Zur, D., Diederen, R. M. H., Boon, C. J. F., & 1 othersSchlingemann, R. O., 1 Nov 2022, In: Acta ophthalmologica. 100, 7, p. e1522-e1532

    Research output: Contribution to journalArticleAcademicpeer-review

  6. Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

    Hermans, M. E., van Weeghel, M., Vaz, F. M., Ferdinandusse, S., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., van Kuilenburg, A. B. P., Pras-Raves, M. L., Wamelink, M. M. C., Wanders, R. J. A., Welsink-Karssies, M. M. & Bosch, A. M., Nov 2022, In: Journal of inherited metabolic disease. 45, 6, p. 1094-1105 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  7. Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report

    Stolwijk, N. N., Langeveld, M., Jacobs, B. A. W., Vogt, L., Haverkamp, J. A., Ferdinandusse, S. & Hollak, C. E. M., 1 Sep 2022, In: JIMD reports. 63, 5, p. 407-413 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

    van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., Santra, S., de Laet, C., Goyens, P. J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J. R., van Hasselt, P. M., Wilcox, G., Morris, A. A. M., Jameson, E. A., & 15 othersde la Parra, A., Arias, C., Garcia, M. I., Cornejo, V., 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., Huijbregts, S. C. J. & van Spronsen, F. J., Sep 2022, In: Journal of inherited metabolic disease. 45, 5, p. 952-962 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  9. High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia

    Haring, M. P. D., Peeks, F., Oosterveer, M. H., Brouwers, M. C. G. J., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Rennings, A. J. M., Wagenmakers, M. A. E. M., Verkade, H. J., Derks, T. G. J. & de Meijer, V. E., 1 Aug 2022, In: JHEP Reports. 4, 8, 100512.

    Research output: Contribution to journalArticleAcademicpeer-review

  10. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

    Wasserstein, M., Lachmann, R., Hollak, C., Arash-Kaps, L., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Ikezoe, T., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Villarrubia, J., Chen, Y., Furey, S., Thurberg, B. L., Zaher, A., & 1 othersKumar, M., 1 Jul 2022, In: Genetics in medicine. 24, 7, p. 1425-1436 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  11. A vitamin a day keeps the doctor away: The need for high quality pyridoxal-5′-phosphate

    Stolwijk, N. N., Brands, M. M., Smit, L. S., van der Wel, V., Hollak, C. E. M. & van Karnebeek, C. D., 1 Jul 2022, In: European journal of paediatric neurology : EJPN. 39, p. 25-29 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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