Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms
Author:
Affiliation:
1. Division of Endocrinology and Diabetology, Ohme Municipal General Hospital, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/56/16/56_8619-16/_pdf
Reference15 articles.
1. 1. Lee WN, Golden MP, Van Herle AJ, Lippe BM, Kaplan SA. Inherited abnormal thyroid hormone-binding protein causing selective increase of total serum thyroxine. J Clin Endocrinol Metab 49: 292-299, 1979.
2. 2. Hennemann G, Docter R, Krenning EP, Bos G, Otten M, Visser TJ. Raised total thyroxine and free thyroxine index but normal free thyroxine. A serum abnormality due to inherited increased affinity of iodothyronines for serum binding protein. Lancet 1: 639-642, 1979.
3. 3. Petersen CE, Scottolini AG, Cody LR, Mandel M, Reimer N, Bhagavan NV. A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. J Med Genet 31: 355-359, 1994.
4. 4. Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, Koike T. A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J Clin Endocrinol Metab 82: 3246-3250, 1997.
5. 5. Greenberg SM, Ferrara AM, Nicholas ES, et al. A novel mutation in the albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid 24: 945-950, 2014.
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. Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children;Journal of Pediatric Endocrinology and Metabolism;2024-05-14
2. Clinical characteristics of familial dysalbuminemic hyperthyroxinemia in Chinese patients and comparison of free thyroxine in three immunoassay methods;Frontiers in Endocrinology;2023-02-14
3. Questionable High Free T4 Concentrations: When Confirming against an Alternative Method Is Not Enough;Clinical Chemistry;2022-09-01
4. Human serum albumin variants in China: a molecular epidemiological investigation and literature review;Journal of International Medical Research;2021-12
5. A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia;International Journal of Endocrinology;2019-09-09
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