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Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM. Lavery GG, et al. Among authors: arlt w. J Clin Endocrinol Metab. 2008 Oct;93(10):3827-32. doi: 10.1210/jc.2008-0743. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628520 Free PMC article.
Inactivating PAPSS2 mutations in a patient with premature pubarche.
Noordam C, Dhir V, McNelis JC, Schlereth F, Hanley NA, Krone N, Smeitink JA, Smeets R, Sweep FC, Claahsen-van der Grinten HL, Arlt W. Noordam C, et al. Among authors: arlt w. N Engl J Med. 2009 May 28;360(22):2310-8. doi: 10.1056/NEJMoa0810489. N Engl J Med. 2009. PMID: 19474428 Free article.
Genetics of congenital adrenal hyperplasia.
Krone N, Arlt W. Krone N, et al. Among authors: arlt w. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):181-92. doi: 10.1016/j.beem.2008.10.014. Best Pract Res Clin Endocrinol Metab. 2009. PMID: 19500762 Free PMC article. Review.
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W, Clark AJ. Metherell LA, et al. Among authors: arlt w. J Clin Endocrinol Metab. 2009 Oct;94(10):3865-71. doi: 10.1210/jc.2009-0467. Epub 2009 Sep 22. J Clin Endocrinol Metab. 2009. PMID: 19773404 Free PMC article.
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Parajes S, et al. Among authors: arlt w. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089618 Free PMC article.
Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
Idkowiak J, Malunowicz EM, Dhir V, Reisch N, Szarras-Czapnik M, Holmes DM, Shackleton CH, Davies JD, Hughes IA, Krone N, Arlt W. Idkowiak J, et al. Among authors: arlt w. J Clin Endocrinol Metab. 2010 Jul;95(7):3418-27. doi: 10.1210/jc.2010-0058. Epub 2010 Apr 21. J Clin Endocrinol Metab. 2010. PMID: 20410220 Free PMC article.
387 results