Hypotonic male infant and MCT8 deficiency - a diagnosis to think about-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about

Published:2014-10-04 Issue:1 Volume:14 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Rodrigues Filipa,Grenha Joana,Ortez Carlos,Nascimento Andrés,Morte Beatriz,M-Belinchón Monica,Armstrong Judith,Colomer Jaume

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/1471-2431-14-252.pdf

Reference22 articles.

1. Bernal J, Guadaño-Ferraz A, Morte B: Perspectives in the study of thyroid hormone action on brain development and function. Thyroid. 2003, 13: 1005-1012. 10.1089/105072503770867174.

2. Morreale de Escobar G, Obregon MJ, Escobar del Rey F: Role of thyroid hormone during early brain development. Eur J Endocrinol. 2004, 151: U25-U37. 10.1530/eje.0.151U025.

3. Heuer H, Visser TJ: Minireview: pathophysiological importance of thyroid hormone transporters. Endocrinology. 2009, 150: 1078-1083. 10.1210/en.2008-1518.

4. Visser WE, Friesema EC, Visser TJ: Minireview: thyroid hormone transporters: the knowns and the unknowns. Mol Endocrinol. 2011, 25: 1-14. 10.1210/me.2010-0095.

5. Kersseboom S, Visser TJ: Tissue-specific effects of mutations in the thyroid hormone transporter MCT8. Arq Bras Endocrinol Metabol. 2011, 55: 1-5. 10.1590/S0004-27302011000100001.

Cited by 17 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. Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report;Medicine;2024-07-19

2. In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity;Frontiers in Endocrinology;2023-05-04

3. MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene;Human Genome Variation;2021-02-16

4. Rabbit neurospheres as a novel in vitro tool for studying neurodevelopmental effects induced by intrauterine growth restriction;Stem Cells Translational Medicine;2020-10-09

5. Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?;Frontiers in Endocrinology;2020-05-13

同舟云学术

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