Read the full text
Create your free account to read the full text.
- Full text with figures and tables
- PDF and supplementary files
- Access on every Galenos journal
One Galenos account works on every Galenos journal site.
References
Güran T, Tezel B, Çakır M, Akıncı A, Orbak Z, Keskin M, Selver Eklioğlu B, Ozon A, Özbek MN, Karagüzel G, Hatipoğlu N, Gürbüz F, Çizmecioğlu FM, Kara C, Şimşek E, Baş F, Aydın M, Darendeliler F. Neonatal screening for congenital adrenal hyperplasia in turkey: outcomes of extended pilot study in 241,083 infants. J Clin Res Pediatr Endocrinol. 2020;12:287-294. Epub 2020 Mar 11. Erratum in: J Clin Res Pediatr Endocrinol. 2021;13:250.
Çamtosun E, Dündar İ, Akıncı A, Kayaş L, Çiftci N. Pediatric Primary adrenal insufficiency: A 21-year single center experience. J Clin Res Pediatr Endocrinol. 2021;13:88-99. Epub 2020 Sep 17.
Yildiz M, Isik E, Abali ZY, Keskin M, Ozbek MN, Bas F, Ucakturk SA, Buyukinan M, Onal H, Kara C, Storbeck KH, Darendeliler F, Cayir A, Unal E, Anik A, Demirbilek H, Cetin T, Dursun F, Catli G, Turan S, Falhammar H, Baris T, Yaman A, Haklar G, Bereket A, Guran T. Clinical and hormonal profiles correlate with molecular characteristics in patients with 11b-hydroxylase deficiency. J Clin Endocrinol Metab. 2021;106:e3714-e3724.
Turan I, Tastan M, Boga DD, Gurbuz F, Kotan LD, Tuli A, Yüksel B. 21-Hydroxylase deficiency: Mutational spectrum and Genotype- Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification. Eur J Med Genet. 2020;63:103782. Epub 2019 Oct 2
Savaş-Erdeve Ş, Çetinkaya S, Abalı ZY, Poyrazoğlu Ş, Baş F, Berberoğlu M, Sıklar Z, Korkmaz Ö, Buluş D, Akbaş ED, Güran T, Böber E, Akın O, Yılmaz GC, Aycan Z. Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height. J Pediatr Endocrinol Metab. 2017;30:759-766.
Guran T, Buonocore F, Saka N, Ozbek MN, Aycan Z, Bereket A, Bas F, Darcan S, Bideci A, Guven A, Demir K, Akinci A, Buyukinan M, Aydin BK, Turan S, Agladioglu SY, Atay Z, Abali ZY, Tarim O, Catli G, Yuksel B, Akcay T, Yildiz M, Ozen S, Doger E, Demirbilek H, Ucar A, Isik E, Ozhan B, Bolu S, Ozgen IT, Suntharalingham JP, Achermann JC. Rare causes of primary adrenal ınsufficiency: genetic and clinical characterization of a large Nationwide cohort. J Clin Endocrinol Metab. 2016;101:284-292. Epub 2015 Nov 2
Siklar Z, Camtosun E, Bolu S, Yildiz M, Akinci A, Bas F, Dündar İ, Bestas A, Ünal E, Kocaay P, Guran T, Buyukyilmaz G, Ugurlu AK, Tosun BG, Turan I, Kurnaz E, Yuksel B, Turkkahraman D, Cayir A, Celmeli G, Gonc EN, Eklioğlu BS, Cetinkaya S, Yilmaz SK, Atabek ME, Buyukinan M, Arslan E, Mengen E, Cakir EDP, Karaoglan M, Hatipoglu N, Orbak Z, Ucar A, Akyurek N, Akbas ED, Isik E, Kaygusuz SB, Sutcu ZK, Seymen G, Berberoglu M. 17a Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort. Endocrine. 2024;85:1407-1416. Epub 2024 Jul 17
Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL; CAHtalyst Pediatric Trial Investigators. Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia. N Engl J Med. 2024;391:493-503.
Prete A, Auchus RJ, Ross RJ. Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia. Eur J Endocrinol. 2021;186:1-14.


