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Browsing by Author Huijben, K.M.

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Showing results 1 to 6 of 6
Full TextIssue DateTitleAuthor(s)
2007Transferrin 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
2007A 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
2006Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.Wopereis, S.; Hamid, U.M. Abd; Critchley, A.; Royle, L.; Dwek, R.A., et al
2005A 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
2005Patients 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
2004Screening 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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