Literature DB >> 16416133

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

Ziad Albahri1, Eliska Marklová, Petr Dedek, Helena Hojdíková, Zdenek Fiedler, Dirk Lefeber, Ron A Wevers, Eva Morava, Suzan Wopereis.   

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Year:  2006        PMID： 16416133     DOI： 10.1007/s00431-005-0047-2

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

1.  Defective protein glycosylation in patients with cutis laxa syndrome.

Authors:  Eva Morava; Suzan Wopereis; Paul Coucke; Gabrielle Gillessen-Kaesbach; Thomas Voit; Jan Smeitink; Ron Wevers; Stephanie Grünewald
Journal:  Eur J Hum Genet       Date:  2005-04       Impact factor: 4.246

2.  A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Authors:  Suzan Wopereis; Eva Morava; Stephanie Grünewald; Philippa B Mills; Bryan G Winchester; Peter Clayton; Paul Coucke; Karin M L C Huijben; Ron A Wevers
Journal:  Biochim Biophys Acta       Date:  2004-12-09

3.  Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.

Authors:  Xiaohua Wu; Richard A Steet; Ognian Bohorov; Jaap Bakker; John Newell; Monty Krieger; Leo Spaapen; Stuart Kornfeld; Hudson H Freeze
Journal:  Nat Med       Date:  2004-04-25       Impact factor: 53.440

4.  Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

Authors:  J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.

Authors:  Suzan Wopereis; Stephanie Grünewald; Eva Morava; Johannes M Penzien; Paz Briones; M Teresa García-Silva; Pierre N M Demacker; Karin M L C Huijben; Ron A Wevers
Journal:  Clin Chem       Date:  2003-11       Impact factor: 8.327
  5 in total

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