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名词信息
中 文 名:
醛固酮合成酶缺陷症Ⅰ型
英 文 名:
aldosterone synthase deficiency type Ⅰ
中文又称:
中文曾称:
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内分泌科
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疾病诊断名词
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Pubmed相关的文献
aldosterone synthase deficiency type Ⅰ
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
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
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
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency.
Geley S, Jöhrer K, Peter M, Denner K, Bernhardt R, Sippell WG, Kofler R.
J Clin Endocrinol Metab. 1995 Feb;80(2):424-9. doi: 10.1210/jcem.80.2.7852500.
PMID:7852500
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 I: hormonal and genetic analyses of two cases.
López-Siguero JP, García-García E, Peter M, Sippell WG.
Horm Res. 1999;52(6):298-300. doi: 10.1159/000023500.
PMID:10965212
A particular phenotype in a girl with aldosterone synthase deficiency.
Williams TA, Mulatero P, Bosio M, Lewicka S, Palermo M, Veglio F, Armanini D.
J Clin Endocrinol Metab. 2004 Jul;89(7):3168-72. doi: 10.1210/jc.2003-031912.
PMID:15240589
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
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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