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A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA. Schernthaner-Reiter MH, et al. Among authors: nella aa. Eur J Pediatr. 2016 May;175(5):727-33. doi: 10.1007/s00431-015-2684-4. Epub 2016 Jan 21. Eur J Pediatr. 2016. PMID: 26795631 Free PMC article.
24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency.
Turcu AF, Mallappa A, Nella AA, Chen X, Zhao L, Nanba AT, Byrd JB, Auchus RJ, Merke DP. Turcu AF, et al. Among authors: nella aa. Front Endocrinol (Lausanne). 2021 Nov 16;12:751191. doi: 10.3389/fendo.2021.751191. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34867794 Free PMC article. Clinical Trial.
Vitamin B12 deficiency in an adolescent girl with polycystic ovarian syndrome.
Gourgari E, Nella AA, Lodish M, Stratakis CA, Yanovski JA. Gourgari E, et al. Among authors: nella aa. Eur J Obstet Gynecol Reprod Biol. 2014 Aug;179:254. doi: 10.1016/j.ejogrb.2014.04.036. Epub 2014 May 9. Eur J Obstet Gynecol Reprod Biol. 2014. PMID: 24933126 Free PMC article. No abstract available.
18 results