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Acta Clinica Belgica
International Journal of Clinical and Laboratory Medicine
Volume 71, 2016 - Issue 6
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Case Report

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure

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References

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  • Funke S, Gardeitchik A, Kouwenberg D, Mohamed M, Wormann S, Korsch E, et al. Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A. 2013;161(3):578–584.10.1002/ajmg.a.v161.3
  • Preisler N, Laforêt P, Echaniz-Laguna A, Ørngreen MC, Lonsdorfer-Wolf E, Doutreleau S, et al. Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency. J Clin Endocrinol Metab. 2013;98(7):E1235–E1240.10.1210/jc.2013-1651
  • Miller BS, Khosravi MJ, Patterson MC, Conover CA. IGF system in children with congenital disorders of glycosylation. Clin Endocrinol. 2009;70(6):892–897.10.1111/cen.2009.70.issue-6
  • Morava E. Galactose supplementation in phoshoglucomutase-1 deficiency; review and outlook for a novel treatable CDG. Mol Genet Metab. 2014;112(4):275–279.10.1016/j.ymgme.2014.06.002
  • Beamer LJ. Mutations in hereditary phsophoglucomutase 1 deficiency map to key regions of enzyme structure and function. J Inherit Metab Dis. 2015;38:243–256.10.1007/s10545-014-9757-9

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