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Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM. Lavery GG, et al. J Clin Endocrinol Metab. 2008 Oct;93(10):3827-32. doi: 10.1210/jc.2008-0743. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628520 Free PMC article.
Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.
Lavery GG, Idkowiak J, Sherlock M, Bujalska I, Ride JP, Saqib K, Hartmann MF, Hughes B, Wudy SA, De Schepper J, Arlt W, Krone N, Shackleton CH, Walker EA, Stewart PM. Lavery GG, et al. Eur J Endocrinol. 2013 Feb 1;168(2):K19-26. doi: 10.1530/EJE-12-0628. Print 2013 Feb. Eur J Endocrinol. 2013. PMID: 23132696 Free PMC article.