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Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG. Krone N, et al. Among authors: holterhus pm. J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. doi: 10.1210/jc.2006-0209. Epub 2006 May 2. J Clin Endocrinol Metab. 2006. PMID: 16670167
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N, Holterhus PM. Riepe FG, et al. Among authors: holterhus pm. J Clin Endocrinol Metab. 2008 Jul;93(7):2891-5. doi: 10.1210/jc.2007-2646. Epub 2008 Apr 29. J Clin Endocrinol Metab. 2008. PMID: 18445671
A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data.
Kulle AE, Riepe FG, Melchior D, Hiort O, Holterhus PM. Kulle AE, et al. Among authors: holterhus pm. J Clin Endocrinol Metab. 2010 May;95(5):2399-409. doi: 10.1210/jc.2009-1670. Epub 2010 Mar 3. J Clin Endocrinol Metab. 2010. PMID: 20200336
179 results