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111 related items for PubMed ID: 23062999

  • 1. [Four cases of aldosterone synthase deficiency in childhood].
    Collinet E, Pelissier P, Richard O, Gay C, Pugeat M, Morel Y, Stephan JL.
    Arch Pediatr; 2012 Nov; 19(11):1191-5. PubMed ID: 23062999
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  • 2. Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
    Merakou C, Fylaktou I, Sertedaki A, Dracopoulou M, Voutetakis A, Efthymiadou A, Christoforidis A, Dacou-Voutetakis C, Chrysis D, Kanaka-Gantenbein C.
    J Clin Endocrinol Metab; 2021 Jan 01; 106(1):e182-e191. PubMed ID: 33098647
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  • 3. Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature.
    Lages AS, Vale B, Oliveira P, Cardoso R, Dinis I, Carrilho F, Mirante A.
    Arch Endocrinol Metab; 2019 Feb 01; 63(1):84-88. PubMed ID: 30864636
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  • 4. Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene.
    Kayes-Wandover KM, Tannin GM, Shulman D, Peled D, Jones KL, Karaviti L, White PC.
    J Clin Endocrinol Metab; 2001 Nov 01; 86(11):5379-82. PubMed ID: 11701710
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  • 5. Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II.
    Peter M, Nikischin W, Heinz-Erian P, Fussenegger W, Kapelari K, Sippell WG.
    Horm Res; 1998 Nov 01; 50(4):222-5. PubMed ID: 9838244
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  • 6. Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.
    Jessen CL, Christensen JH, Birkebaek NH, Rittig S.
    Acta Paediatr; 2012 Nov 01; 101(11):e519-25. PubMed ID: 22931312
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  • 7. Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.
    Üstyol A, Atabek ME, Taylor N, Yeung MC, Chan AO.
    J Clin Res Pediatr Endocrinol; 2016 Sep 01; 8(3):356-9. PubMed ID: 27125267
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  • 9. Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.
    Papailiou S, Vlachopapadopoulou EA, Sertedaki A, Maritsi D, Syggelos N, Syggelou A.
    Endocr Regul; 2020 Jul 01; 54(3):227-229. PubMed ID: 32857717
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  • 10. Multisteroid analysis in children with terminal aldosterone biosynthesis defects.
    Peter M, Partsch CJ, Sippell WG.
    J Clin Endocrinol Metab; 1995 May 01; 80(5):1622-7. PubMed ID: 7745009
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  • 11. Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.
    Klomchan T, Supornsilchai V, Wacharasindhu S, Shotelersuk V, Sahakitrungruang T.
    Eur J Pediatr; 2012 Oct 01; 171(10):1559-62. PubMed ID: 22801770
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  • 12. Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
    Gurpinar Tosun B, Kendir Demirkol Y, Seven Menevse T, Kaygusuz SB, Ozbek MN, Altincik SA, Mammadova J, Cayir A, Doger E, Bayramoglu E, Nalbantoglu O, Yesiltepe Mutlu G, Aghayev A, Turan S, Bereket A, Guran T.
    J Clin Endocrinol Metab; 2022 Jan 01; 107(1):e106-e117. PubMed ID: 34415991
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  • 13. Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.
    Kondo E, Nakamura A, Homma K, Hasegawa T, Yamaguchi T, Narugami M, Hattori T, Aoyagi H, Ishizu K, Tajima T.
    Endocr J; 2013 Jan 01; 60(1):51-5. PubMed ID: 23018980
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  • 15. Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism.
    Akin L, Kurtoglu S, Kendirci M, Akin MA, Hartmann MF, Wudy SA.
    Horm Res Paediatr; 2010 Jan 01; 74(1):72-5. PubMed ID: 20431271
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  • 16. Congenital hypoaldosteronism: the Visser-Cost syndrome revisited.
    Peter M, Sippell WG.
    Pediatr Res; 1996 Mar 01; 39(3):554-60. PubMed ID: 8929880
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  • 17. Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2.
    Turan H, Dağdeviren Çakır A, Özer Y, Tarçın G, Özcabi B, Ceylaner S, Ercan O, Evliyaoğlu SO.
    J Clin Res Pediatr Endocrinol; 2021 Jun 02; 13(2):232-238. PubMed ID: 32539318
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  • 19. Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
    Turan I, Kotan LD, Tastan M, Gurbuz F, Topaloglu AK, Yuksel B.
    Clin Endocrinol (Oxf); 2018 Jun 02; 88(6):799-805. PubMed ID: 29582446
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  • 20. Aldosterone synthase deficiency type II with hypospadias.
    Gucev Z, Tasic V, Pop-Jordanova N, Riepe FG.
    Indian Pediatr; 2012 Apr 02; 49(4):318-20. PubMed ID: 22565077
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