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01-03-2006 | Short Report

CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans

Authors: Ziad Albahri, Eliška Marklová, Petr Dědek, Helena Hojdíková, Zdeněk Fiedler, Dirk Lefeber, Ron A Wevers, Eva Morava, Suzan Wopereis

Published in: European Journal of Pediatrics | Issue 3/2006

Excerpt

We report on a 5.5-year-old boy with a multiple malformation syndrome and biochemical abnormalities suggesting a combined defect in the biosynthesis of N- and O-glycans. …

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Wopereis S, Grünewald S, Morava É, Penzien JM, Briones P, García-Silva MT, Demacker PNM, Huijben KMLC, Wevers RA (2003) Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem 49(11):1839–1845PubMedCrossRef

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Title: CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans
Authors: Ziad Albahri
Eliška Marklová
Petr Dědek
Helena Hojdíková
Zdeněk Fiedler
Dirk Lefeber
Ron A Wevers
Eva Morava
Suzan Wopereis
Publication date: 01-03-2006
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 3/2006
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-005-0047-2

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CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans

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