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

CONTEXT: Inactivating mutations in the enzyme hexose-6-phosphate dehydrogenase (H6PDH, encoded by H6PD) cause apparent cortisone reductase deficiency (ACRD). H6PDH generates cofactor NADPH for 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1, encoded by HSD11B1) oxo-reductase activity, converting c...

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Main Authors: 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
格式: Artigo
語言:Inglês
出版: BioScientifica 2013
主題:
Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3547489/
https://ncbi.nlm.nih.gov/pubmed/23132696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-12-0628
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