Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling

por Lavery, G G, Idkowiak, J, Sherlock, M, Bujalska, I, Ride, J P, Saqib, K, Hartmann, M F, Hughes, B, Wudy, S A, De Schepper, J, Arlt, W, Krone, N, Shackleton, C H, Walker, E A, Stewart, P M
Publicado 2013