A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://link.springer.com/content/pdf/10.1007/s40618-019-01099-2.pdf
Reference47 articles.
1. Allgrove J, Clayden GS, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. The Lancet 311:1284–1286. https://doi.org/10.1016/S0140-6736(78)91268-0
2. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A (2001) Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10:283–290. https://doi.org/10.1093/hmg/10.3.283
3. Tullio-Pelet A, Salomon R, Hadj-Rabia S et al (2000) Mutant WD-repeat protein in triple-A syndrome. Nat Genet 26:332–335. https://doi.org/10.1038/81642
4. Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ (2002) Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol 158:915–927. https://doi.org/10.1083/jcb.200206106
5. Prasad R, Metherell LA, Clark AJ, Storr HL (2013) Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology 154:3209–3218. https://doi.org/10.1210/en.2013-1241
Cited by 12 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. Neurological Characteristics of Allgrove Syndrome: A Case Series;Annals of Child Neurology;2024-04-01
2. Fertility and sexual activity in patients with Triple A syndrome;Frontiers in Endocrinology;2024-03-13
3. Achalasia cardia sub-types in children: Does it affect the response to therapy?;Indian Journal of Gastroenterology;2023-06-10
4. Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology;Endocrine;2022-10-30
5. The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey;Endocrine;2022-10-04
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