1. 2023
  2. Sex-specific newborn screening for X-linked adrenoleukodystrophy

    Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., Metgod, I., Salomons, G. S., Vaz, F. M., Verschoof-Puite, R. K., Visser, W. F., Dekkers, E., Engelen, M., & 1 othersKemp, S., 17 Jan 2023, In: Journal of inherited metabolic disease. 46, 1, p. 116-128 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 2022
  4. Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

    Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, N., Hedberg-Oldfors, C., Régal, L., Donker Kaat, L., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G. & Ferdinandusse, S., Jul 2022, In: Journal of inherited metabolic disease. 45, 4, p. 819-831 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 2021
  6. Biochemical studies in fibroblasts to interpret variants of unknown significance in the abcd1 gene

    van de Stadt, S. I. W., Mooyer, P. A. W., Dijkstra, I. M. E., Dekker, C. J. M., Vats, D., Vera, M., Ruzhnikov, M. R. Z., van Haren, K., Tang, N., Koop, K., Willemsen, M. A., Hui, J., Vaz, F. M., Ebberink, M. S., Engelen, M., Kemp, S. & Ferdinandusse, S., 1 Dec 2021, In: Genes. 12, 12, 1930.

    Research output: Contribution to journalArticleAcademicpeer-review

  7. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

    Hagemeijer, M. C., Oussoren, E., Ruijter, G. J. G., Onkenhout, W., Huidekoper, H. H., Ebberink, M. S., Waterham, H. R., Ferdinandusse, S., de Vries, M. C., Huigen, M. C. D. G., Kluijtmans, L. A. J., Coene, K. L. M. & Blom, H. J., 2021, In: JIMD reports. 61, 1, p. 12-18 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. 2019
  9. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency

    Ferdinandusse, S., te Brinke, H., Ruiter, J. P. N., Haasjes, J., Oostheim, W., van Lenthe, H., IJlst, L., Ebberink, M. S., Wanders, R. J. A., Vaz, F. M. & Waterham, H. R., 2019, In: Human mutation. 40, 10, p. 1899-1904

    Research output: Contribution to journalArticleAcademicpeer-review

  10. 2018
  11. Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies

    Wanders, R. J. A., Vaz, F. M., Ferdinandusse, S., Kemp, S., Ebberink, M. S. & Waterham, H. R., 21 Nov 2018, In: Journal of Inborn Errors of Metabolism and Screening. 6

    Research output: Contribution to journalArticleAcademicpeer-review

ID: 5200407