Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency

Gareth G. Lavery, Elizabeth A. Walker, Ana Tiganescu, Jon P. Ride, Cedric H L Shackleton, Jeremy W. Tomlinson, John M C Connell, David W. Ray, Anna Biason-Lauber, Ewa M. Malunowicz, Wiebke Arlt, Paul M. Stewart

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    Biochemistry, Genetics and Molecular Biology