Research output per year
Research output per year
Search results
-
2023
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Ferreira, E. A., Buijs, M. J. N., Wijngaard, R., Daams, J. G., Datema, M. R., Engelen, M., van Karnebeek, C. D. M., Oud, M. M., Vaz, F. M., Wamelink, M. M. C., van der Crabben, S. N. & Langeveld, M., 2023, In: Frontiers in Neurology. 14, p. 1206106 1206106.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access1 Citation (Scopus) -
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective
Peters, T. M. A., Engelke, U. F. H., de Boer, S., Reintjes, J. T. G., Roullet, J-B., Broekman, S., de Vrieze, E., van Wijk, E., Wamelink, M. M. C., Artuch, R., Barić, I., Merx, J., Boltje, T. J., Martens, J., Willemsen, M. A. A. P., Verbeek, M. M., Wevers, R. A., Gibson, K. M. & Coene, K. L. M., 2023, (E-pub ahead of print) In: Journal of Inherited Metabolic Disease.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access1 Citation (Scopus)