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ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study

el Sayed, M., Postema, P. G., Datema, M., van Dussen, L., Kors, J. A., ter Haar, C. C., Bleijendaal, H., Galenkamp, H., van den Born, B-J. H., Hollak, C. E. M. & Langeveld, M., 1 Feb 2023, In: Diagnostics. 13, 3, 354.

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

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 journal › Comment/Letter to the editor › Academic

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Review article › Academic › peer-review

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 journal › Review article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review