Disease severity and clinical outcome in phosphosglucomutase deficiency-Reference-Cited by-同舟云学术

Disease severity and clinical outcome in phosphosglucomutase deficiency

Published:2014-10-07 Issue:2 Volume:38 Page:207-209
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Morava Eva,Wong Sunnie,Lefeber Dirk

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-014-9769-5.pdf

Reference9 articles.

1. Beamer L (2014) Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function. J Inherit Metab Dis (in press)

2. Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen M (2007) Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D phosphohexomutase family. J Biol Chem 282(44):31844–31851

3. March RE, Putt W, Hollyoake M et al (1993) The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. Proc Natl Acad Sci U S A 90:10730–10733

4. Morava E (2014) Galactose supplementation in Phosphoglucomutase deficiency; review and outlook for a novel treatable CDG. Mol Genet Metab 112(4):275–279

5. Scott K, Gadomski T, Kozicz T, Morava E (2014) Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. doi: 10.1007/s10545-014-9720-9

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