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aldosterone synthase deficiency type Ⅱ相关文献:
Aldosterone synthase deficiency type II with hypospadias.
PMID:
A compound heterozygote case of type II aldosterone synthase deficiency.
PMID:
Type 1 aldosterone synthase deficiency presenting in a middle-aged man.
PMID:
Hyper- and hypoaldosteronism.
Torpy DJ, Stratakis CA, Chrousos GP.
Vitam Horm. 1999;57:177-216. doi: 10.1016/s0083-6729(08)60644-5.
PMID:10232050
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
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM, Crock PA, Montalto J, Funder JW, Curnow KM.
J Clin Endocrinol Metab. 2003 Jun;88(6):2518-26. doi: 10.1210/jc.2003-030353.
PMID:12788848
Structural and clinical characterization of CYP11B2 inhibition by dexfadrostat phosphate.
Pignatti E, Kollar J, Hafele E, Schuster D, Steele RE, Vogt B, Schumacher C, Groessl M.
J Steroid Biochem Mol Biol. 2023 Dec;235:106409. doi: 10.1016/j.jsbmb.2023.106409. Epub 2023 Oct 10.
PMID:37827219
The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene.
Hui E, Yeung MC, Cheung PT, Kwan E, Low L, Tan KC, Lam KS, Chan AO.
BMC Endocr Disord. 2014 Apr 3;14:29. doi: 10.1186/1472-6823-14-29.
PMID:24694176
Type 1 aldosterone synthase deficiency presenting in a middle-aged man.
Kayes-Wandover KM, Schindler RE, Taylor HC, White PC.
J Clin Endocrinol Metab. 2001 Mar;86(3):1008-12. doi: 10.1210/jcem.86.3.7326.
PMID:11238478
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;63(1):84-88. doi: 10.20945/2359-3997000000107.
PMID:30864636
Aldosterone synthase deficiency type II with hypospadias.
Gucev Z, Tasic V, Pop-Jordanova N, Riepe FG.
Indian Pediatr. 2012 Apr;49(4):318-20.
PMID:22565077
Classic and current concepts in adrenal steroidogenesis: a reappraisal.
Kater CE, Giorgi RB, Costa-Barbosa FA.
Arch Endocrinol Metab. 2022 Mar 8;66(1):77-87. doi: 10.20945/2359-3997000000438.
PMID:35263051
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M, Dubuis JM, Sippell WG.
Horm Res. 1999;51(5):211-22. doi: 10.1159/000023374.
PMID:10559665
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