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aldosterone synthase deficiency相关文献:
Aldosterone synthase deficiency and related disorders.
White PC.
Mol Cell Endocrinol. 2004 Mar 31;217(1-2):81-7. doi: 10.1016/j.mce.2003.10.013.
PMID:15134805
Aldosterone Deficiency and Resistance.
Arai K, Papadopoulou-Marketou N, Chrousos GP.
2020 Nov 24. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
PMID:25905305
[Aldosterone synthase deficiency].
Takeda Y.
Nihon Rinsho. 2006 May 28;Suppl 1:702-4.
PMID:16776253
Aldosterone Synthase Deficiency: A Rare Cause of Salt-Wasting Syndrome in a Child.
Barbaria W, Bourcheda M, Karabibene E, Jendoubi J, Khamassi I.
Indian J Pediatr. 2024 Dec;91(12):1299. doi: 10.1007/s12098-024-05280-1. Epub 2024 Oct 12.
PMID:39394543
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Faingelernt Y, Hershkovitz E, Abu-Libdeh B, Abedrabbo A, Abu-Rmaileh Amro S, Zarivach R, Zangen D, Lavi E, Haim A, Parvari R, Abu-Libdeh A.
Am J Med Genet A. 2021 Apr;185(4):1033-1038. doi: 10.1002/ajmg.a.62056. Epub 2021 Jan 13.
PMID:33438832
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 1;107(1):e106-e117. doi: 10.1210/clinem/dgab619.
PMID:34415991
Hypoaldosteronism.
Rajkumar V, Waseem M.
2023 Aug 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:32310452
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H, Yu Z, Lu L, Zhu H, Auchus RJ, Liu J, Jiang J, Pan H, Gong F, Chen S, Lu Z.
Steroids. 2019 Oct;150:108448. doi: 10.1016/j.steroids.2019.108448. Epub 2019 Jul 11.
PMID:31302112
A Japanese girl with aldosterone synthase deficiency requiring fludrocortisone until 10 years of age.
Koyama S, Tsuboi T, Naganuma J, Arisaka O, Yoshihara S.
Pediatr Int. 2023 Jan-Dec;65(1):e15625. doi: 10.1111/ped.15625.
PMID:37776040
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 1;54(3):227-229. doi: 10.2478/enr-2020-0025.
PMID:32857717
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