The skeletal manifestations of the congenital disorders of glycosylation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01015.x/fullpdf
Reference64 articles.
1. Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds;Spiro;Glycobiology,2002
2. Genetic defects in the human glycome;Freeze;Nat Rev Genet,2006
3. The congenital disorders of glycosylation: a multifaceted group of syndromes;Eklund;NeuroRx,2006
4. Congenital disorders of glycosylation: a rapidly expanding disease family;Jaeken;Annu Rev Genomics Hum Genet,2007
5. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy;Kranz;Am J Hum Genet,2007
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