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Editorial
. 2015 Mar;38(2):207-9.
doi: 10.1007/s10545-014-9769-5.

Disease severity and clinical outcome in phosphosglucomutase deficiency

Affiliations
Editorial

Disease severity and clinical outcome in phosphosglucomutase deficiency

Eva Morava et al. J Inherit Metab Dis. 2015 Mar.
No abstract available

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Conflict of interest statement

Conflict of Interest:

Eva Morava, Sunnie Wong and Dirk Lefeber declare that they have no conflict of interest.

Comment on

References

    1. Beamer L. Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function. J Inherit Metab Dis. 2014 In press. - PubMed
    1. Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen M. Molecular Identification of Mammalian Phosphopentomutase and Glucose-1,6-bisphosphate Synthase, Two Members of the –D Phosphohexomutase Family. The Journal of Biol Chem. 2007;282(44):31844–31851. - PubMed
    1. March RE, Putt W, Hollyoake M, et al. The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. Proc Natl Acad Sci U S A. 1993;90:10730–10733. - PMC - PubMed
    1. Morava E. Galactose supplementation in Phosphoglucomutase deficiency; review and outlook for a novel treatable CDG. Mol Genet Metab. 2014;112(4):275–279. - PMC - PubMed
    1. Scott K, Gadomski T, Kozicz T, Morava E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. 2014 doi: 10.1007/s10545-014-9720-9. - DOI - PMC - PubMed

Supplementary concepts