-
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders
Oud, M. M., Ferreira, E. A., van Karnebeek, C. D. M., Wijngaard, R., Wolf, N. I., Engelen, M., Datema, M., Ferdinandusse, S., van Kuilenburg, A. B. P., Steinbusch, L. & ZOEMBA Study Group, 1 Sept 2026, In: Journal of inherited metabolic disease. 49, 5, p. e70238 e70238.Research output: Contribution to Journal › Article › Academic › peer-review
-
Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities
Ferreira, E. A., Oud, M. M., Kamsteeg, E.-J., van Karnebeek, C. D. M., Langeveld, M., Leter, E. M., Vogel, M. J., Wolf, N. I., Roosendaal, S. D., van Dillen, J. J., Schijns, O. E. M. G., Tousseyn, S., Hoeberigs, C., Rouhl, R. P. W. & van der Crabben, S. N., 2026, In: Frontiers in Radiology. 6, 1782924.Research output: Contribution to Journal › Article › Academic › peer-review
-
Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants
Ferreira, E. A., Oud, M. M., van der Crabben, S. N., Versloot, M., Goorden, S. M. I., van Karnebeek, C. D. M., Kroon, J. & Langeveld, M., 1 Mar 2025, In: Genes. 16, 3, 289.Research output: Contribution to Journal › Article › Academic › peer-review
- All publications
