A new genetic disorder might be treatable through consumption of a simple sugar, but the relative contributions of endogenous and dietary sources are mostly unknown. It's time to change that.
References
Karnebeek, C.D. et al. Nat. Genet. 48, 777–784 (2016).
Niehues, R. et al. J. Clin. Invest. 101, 1414–1420 (1998).
Marquardt, T. et al. Blood 94, 3976–3985 (1999).
Tegtmeyer, L.C. et al. N. Engl. J. Med. 370, 533–542 (2014).
Niethamer, T.K. et al. Mol. Genet. Metab. 107, 748–755 (2012).
Salvatore, S. et al. Aliment. Pharmacol. Ther. 14, 1567–1579 (2000).
Zhang, Y. et al. J. Allergy Clin. Immunol. 133, 1400–1409, 1409.e1–1409.e5 (2014).
Grigorian, A. et al. J. Biol. Chem. 286, 40133–40141 (2011).
Sharma, V., Ichikawa, M. & Freeze, H.H. Biochem. Biophys. Res. Commun. 453, 220–228 (2014).
Ichikawa, M., Scott, D.A., Losfeld, M.E. & Freeze, H.H. J. Biol. Chem. 289, 6751–6761 (2014).
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Freeze, H. Perhaps a wee bit of sugar would help. Nat Genet 48, 705–707 (2016). https://doi.org/10.1038/ng.3600
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DOI: https://doi.org/10.1038/ng.3600
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