1. 2023
  2. 2022
  3. Antibodies against recombinant enzyme in the treatment of Fabry disease: Now you see them, now you don't

    van der Veen, S. J. & Langeveld, M., 8 Dec 2022, In: Molecular Therapy - Methods and Clinical Development. 27, p. 324-326 3 p.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  4. Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy

    Jaeger, B., Corpeleijn, W., Dijsselhof, M., Goorden, S., Haverkamp, J., Langeveld, M., Waterham, H., Westerbeek, E. & Bosch, A. M., 1 Dec 2022, In: Neonatology. 119, 6, p. 777-780 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 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

  6. 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 Sept 2022, In: JIMD reports. 63, 5, p. 407-413 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  7. How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

    Wortmann, S. B., Oud, M. M., Alders, M., Coene, K. L. M., van der Crabben, S. N., Feichtinger, R. G., Garanto, A., Hoischen, A., Langeveld, M., Lefeber, D., Mayr, J. A., Ockeloen, C. W., Prokisch, H., Rodenburg, R., Waterham, H. R., Wevers, R. A., van de Warrenburg, B. P. C., Willemsen, M. A. A. P., Wolf, N. I., Vissers, L. E. L. M., & 1 othersvan Karnebeek, C. D. M., Jul 2022, In: Journal of inherited metabolic disease. 45, 4, p. 663-681 19 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  8. Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach

    Crefcoeur, L. L., Visser, G., Ferdinandusse, S., Wijburg, F. A., Langeveld, M. & Sjouke, B., May 2022, In: Journal of inherited metabolic disease. 45, 3, p. 386-405 20 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  9. Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

    van der Veen, S. J., Körver, S., Hirsch, A., Hollak, C. E. M., Wijburg, F. A., Brands, M. M., Tøndel, C., van Kuilenburg, A. B. P. & Langeveld, M., Feb 2022, In: Molecular genetics and metabolism. 135, 2, p. 163-169 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  10. 2021
  11. Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects

    Timmer, C., Davids, M., Nieuwdorp, M., Levels, J. H. M., Langendonk, J. G., Breederveld, M., Ahmadi Mozafari, N. & Langeveld, M., 1 Dec 2021, In: Molecular genetics and metabolism reports. 29, 100794.

    Research output: Contribution to journalArticleAcademicpeer-review

  12. Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease

    el Sayed, M., Hirsch, A., Boekholdt, M., van Dussen, L., Datema, M., Hollak, C. & Langeveld, M., 1 Dec 2021, In: Heart. 107, 23, p. 1889-1897 9 p., heartjnl-2020-317922.

    Research output: Contribution to journalArticleAcademicpeer-review

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