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References

These sources were used to develop the Genetics Home Reference gene summary on the PMM2 gene.

Entrez Gene
Freeze HH. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. Biochim Biophys Acta. 2009 Sep;1792(9):835-40. doi: 10.1016/j.bbadis.2009.01.004. Review. PubMed citation
Gao N, Shang J, Lehrman MA. Analysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphate. J Biol Chem. 2005 May 6;280(18):17901-9. Epub 2005 Feb 11. PubMed citation
Gene Review: PMM2-CDG (CDG-Ia)
Grünewald S. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta. 2009 Sep;1792(9):827-34. doi: 10.1016/j.bbadis.2009.01.003. Epub 2009 Jan 14. Review. PubMed citation
Haeuptle MA, Hennet T. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126. Review. PubMed citation
OMIM: PHOSPHOMANNOMUTASE 2

Reviewed: July 2010

Published: May 13, 2013