Research output per year
Research output per year
Personal profile
Research interests
Molecular biology and molecular genetics of inborn errors of metabolism with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisomal defects.
Specialisation
Molecular biology, metabolism, mouse model
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
- 6 Article
-
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 others, 17 Jan 2023, In: Journal of Inherited Metabolic Disease. 46, 1, p. 116-128 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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 journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
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 journal › Article › Academic › peer-review
Open Access2 Citations (Scopus) -
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 journal › Article › Academic › peer-review
Open Access3 Citations (Scopus) -
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., 1 Oct 2019, In: Human mutation. 40, 10, p. 1899-1904Research output: Contribution to journal › Article › Academic › peer-review
Open Access14 Citations (Scopus)