Disease severity and clinical outcome in phosphosglucomutase deficiency
- PMID: 25288126
- PMCID: PMC4344407
- DOI: 10.1007/s10545-014-9769-5
Disease severity and clinical outcome in phosphosglucomutase deficiency
Conflict of interest statement
Eva Morava, Sunnie Wong and Dirk Lefeber declare that they have no conflict of interest.
Comment on
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Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.J Inherit Metab Dis. 2015 Mar;38(2):243-56. doi: 10.1007/s10545-014-9757-9. Epub 2014 Aug 29. J Inherit Metab Dis. 2015. PMID: 25168163 Review.
References
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- 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
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- 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
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