Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Endocrinology, Diabetes and Metabolism
Link
http://link.springer.com/content/pdf/10.1007/s42000-020-00217-7.pdf
Reference26 articles.
1. Allgrove J, Clayden GS, Grant DB, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 311(8077):1284–1286
2. Patt H, Koehler K, Lodha S, Jadhav S, Yerawar C, Huebner A, Thakkar K, Arya S, Nair S, Goroshi M, Ganesh H (2017) Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature. Endocr Connect 6(8):901–913
3. Gazarian M, Cowell CT, Bonney M, Grigor WG (1995) The “4A” syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Paediatr Dent 154(1):18–23
4. Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D (2002) Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology. 58(6):962–965
5. Vallet AE, Verschueren A, Petiot P, Vandenberghe N, Nicolino M, Roman S, Pouget J, Vial C (2012) Neurological features in adult Triple-A (Allgrove) syndrome. J Neurol 259(1):39–46
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A Triple a Syndrome with Neurological Findings; C464g>A Mutation in the Aaas Gene;2024
2. Don’t forget Allgrove syndrome in adult patients as a bulbar-ALS mimicker;Neurological Sciences;2023-07-17
3. The etiology and clinical features of non-CAH primary adrenal insufficiency in children;Frontiers in Pediatrics;2022-08-19
4. An Update on Genetics of Adrenal Gland and Associated Disorders;Endocrines;2022-04-13
5. Allgrove syndrome with amyotrophy;Practical Neurology;2021-12-30
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3