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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 (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
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
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
[Aldosterone synthase deficiency].
Takeda Y.
Nihon Rinsho. 2006 May 28;Suppl 1:702-4.
PMID:16776253
Glucose-6-phosphate dehydrogenase, NADPH, and cell survival.
Stanton RC.
IUBMB Life. 2012 May;64(5):362-9. doi: 10.1002/iub.1017. Epub 2012 Mar 20.
PMID:22431005
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
Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report.
Kamarajan LP, Mahto M, Kumar S, Kumar P.
Lab Med. 2024 Dec 19:lmae102. doi: 10.1093/labmed/lmae102. Online ahead of print.
PMID:39700478
Hypoaldosteronism.
Rajkumar V, Waseem M.
2023 Aug 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:32310452
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