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Browsing by Author Huijben, K.M.
Showing results 1 to 6 of 6
| Full Text | Issue Date | Title | Author(s) | | 2007 | Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. | Wopereis, S.; Grunewald, S.; Huijben, K.M.; Morava, E.; Mollicone, R., et al |
| 2007 | A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. | Morava, E.; Zeevaert, R.; Korsch, E.; Huijben, K.M.; Wopereis, S., et al |
| 2006 | Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. | Wopereis, S.; Hamid, U.M. Abd; Critchley, A.; Royle, L.; Dwek, R.A., et al |
| 2005 | A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. | Wopereis, S.; Morava, E.; Grunewald, S.; Mills, P.B.; Winchester, B.G., et al |
| 2005 | Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. | Wopereis, S.; Morava, E.; Grunewald, S.; Adamowicz, M.; Huijben, K.M., et al |
| 2004 | Screening for CDG type Ia in Joubert syndrome. | Morava, E.; Cser, B.; Karteszi, J.; Huijben, K.M.; Szonyi, L., et al |
Showing results 1 to 6 of 6
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