TY - JOUR AU - Miller, W. L. AU - Auchus, R. J. PY - 2011 DA - 2011// TI - The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders JO - Endocr Rev VL - 32 UR - https://doi.org/10.1210/er.2010-0013 DO - 10.1210/er.2010-0013 ID - Miller2011 ER - TY - JOUR AU - Sahakitrungruang, T. AU - Tee, M. K. AU - Speiser, P. W. AU - Miller, W. L. PY - 2009 DA - 2009// TI - Novel P450c17 mutation H373D causing combined 17α-hydroxylase/17,20 lyase deficiency JO - J Clin Endocrinol Metab VL - 94 UR - https://doi.org/10.1210/jc.2009-0645 DO - 10.1210/jc.2009-0645 ID - Sahakitrungruang2009 ER - TY - JOUR AU - Sahakitrungruang, T. AU - Tee, M. K. AU - Blackett, P. R. AU - Miller, W. L. PY - 2011 DA - 2011// TI - Partial defect in the cholesterol side-chain cleavage enzyme, P450scc (CYP11A1) resembling non-classic congenital lipoid adrenal hyperplasia JO - J Clin Endocrinol Metab VL - 96 UR - https://doi.org/10.1210/jc.2010-1828 DO - 10.1210/jc.2010-1828 ID - Sahakitrungruang2011 ER - TY - JOUR AU - Jeandron, D. D. AU - Sahakitrungruang, T. PY - 2012 DA - 2012// TI - A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: An unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency JO - Horm Res Paediatr VL - 77 UR - https://doi.org/10.1159/000336004 DO - 10.1159/000336004 ID - Jeandron2012 ER - TY - JOUR AU - Sahakitrungruang, T. AU - Soccio, R. E. AU - Lang-Muritano, M. AU - Walker, J. M. AU - Achermann, J. C. AU - Miller, W. L. PY - 2010 DA - 2010// TI - Clinical, genetic and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) JO - J Clin Endocrinol Metab VL - 95 UR - https://doi.org/10.1210/jc.2010-0437 DO - 10.1210/jc.2010-0437 ID - Sahakitrungruang2010 ER - TY - JOUR AU - Sahakitrungruang, T. AU - Huang, N. AU - Tee, M. K. AU - Agrawal, V. AU - Russell, W. E. AU - Crock, P. PY - 2009 DA - 2009// TI - Clinical, genetic and enzymatic characterization of P450 oxidoreductase deficiency in four patients JO - J Clin Endocrinol Metab VL - 94 UR - https://doi.org/10.1210/jc.2009-1460 DO - 10.1210/jc.2009-1460 ID - Sahakitrungruang2009 ER -