|
|
DSpace at RU >
Browsing by Author Coster, R. van
Showing results 1 to 5 of 5
| Full Text | Issue Date | Title | Author(s) | | 2010 | Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. | Buysse, K.; Vergult, S.; Mussche, S.; Ceuterick-de Groote, C.; Speleman, F., et al |
| 2009 | Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects. | Paepe, B. De; Smet, J.; Lammens, M.M.Y.; Seneca, S.; Martin, J.J., et al |
| 2007 | Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. | Scheper, G.C.; Klok, T. van der; Andel, R.J. van; Berkel, C.G. van; Sissler, M., et al |
| 2006 | Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency. | Gerlo, E.A.; Coster, R. van; Lissens, W.; Winckelmans, G.; Meirleir, L. de, et al |
| 2005 | Aminoacylase I deficiency: a novel inborn error of metabolism. | Coster, R. van; Gerlo, E.A.; Giardina, T.G.; Engelke, U.F.H.; Smet, J.E., et al |
Showing results 1 to 5 of 5
|