首页> 美国卫生研究院文献>Springer Open Choice >Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome

【2h】

Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome

机译：吉特曼综合征的13个家系的特征和随访

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

ContextGitelman syndrome (GS) is clinically heterogeneous. The genotype and phenotype correlation has not been well established. Though the long-term prognosis is considered to be favorable, hypokalemia is difficult to cure.

机译：盖特曼综合征（GS）在临床上是异质性的。基因型和表型的相关性尚未很好地建立。尽管长期预后被认为是有利的，但低钾血症难以治愈。

著录项

期刊名称 Springer Open Choice
作者
F. Zhong; H. Ying; W. Jia; X. Zhou; H. Zhang; Q. Guan; J. Xu; L. Fang; J. Zhao; C. Xu;
展开▼
作者单位

展开▼
年(卷),期 -1(42),6
年度 -1
页码 653–665
总页数 13
原文格式 PDF
正文语种
中图分类外科学 ;
关键词
Gitelman syndrome Pedigree Solute carrier family 12 member 3 (SLC12A3) Genotype Phenotype Follow-up;

机译：Gitelman综合征;谱系;溶质携带者家族12;成员3（SLC12A3）;基因型;表型;随访;

相似文献

外文文献
中文文献
专利

1. Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome [J] . Zhong F., Ying H., Jia W., Journal of Endocrinological Investigation: Official Journal of the Italian Society of Endocrinology . 2019 ,第6期

机译：与吉茨曼综合征的13个小章的特征和随访
2. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics [J] . Matsunoshita Natsuki, Nozu Kandai, Shono Akemi, Genetics in medicine . 2016 ,第2期

机译：基于临床特征的Bartter综合征，Gitelman综合征和假Bartter / Gitelman综合征的鉴别诊断
3. Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes [J] . Bingzi Dong, Ying Chen, Xinying Liu, BMC Nephrology . 2020 ,第1期

机译：鉴定吉特曼综合征展示Bartter综合征喜欢表型的Chinumigree中SLC12A3基因的复合突变
4. How many eventually develop hypothyroidism? A 5-year follow-up of Turner syndrome [C] . K. Landin-Wilhelmsen, M. El-Mansoury, I. Bryman, National Institute of Child Health and Human Development, National Institute of Health . 2006

机译：有多少最终发展甲状腺功能减退症？特纳综合征的5年后续随访
5. Role of Ciliary Proteins Adp Ribosylation Factor Like GTPase 13B (ARL13B) and Bardet-Biedl Syndrome-8 (BBS8) in Photoreceptor Outer Segment Morphogenesis, Maintenance, and Viability [D] . Dilan Perez, Tanya Lee. 2020

机译：睫状蛋白ADP核糖基化因子如GTPAse 13b（Arl13b）和Bardet-biedl综合征-8（bbs8）在感光体外部细胞发生，维护和活力中的作用
6. Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes [O] . Bingzi Dong, Ying Chen, Xinying Liu, 2020

机译：鉴定吉特曼综合征展示Bartter综合征喜欢表型的Chinumigree中SLC12A3基因的复合突变
7. Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome [O] . F. Zhong, H. Ying, W. Jia, 2018

机译：吉特尔曼综合征的13个小章的特征和随访

Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome

摘要

著录项

相似文献

相关主题

期刊订阅