A Case of Perinatal Lethal Form of Hypophosphatasia; and Review of Literatures

ACF Lam; CW Lam; MHY Tang; JWY Chu; STS Lam

首页> 外文期刊>Hong Kong Journal of Paediatrics >A Case of Perinatal Lethal Form of Hypophosphatasia; and Review of Literatures

【24h】

A Case of Perinatal Lethal Form of Hypophosphatasia; and Review of Literatures

机译：围产期致命性低磷酸盐血症一例;与文学评论

获取原文

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Hypophosphatasia is a rare inborn error of metabolism. The disease is characterised by skeletal mineralisation and dentition defects. Mutations have been found in the TNSALP gene in various forms of hypophosphatasia. We report the first Chinese case of perinatal lethal form of hypophosphatasia due to previously reported pathogenic compound heterozygous mutation in the TNSALP gene; and successfully applied clinically in prenatal diagnostic testing. The authors emphasised the importance of accurate diagnosis of fetal presentation of skeletal dysplasia for genetic counselling, and discussed its differential diagnoses.

机译：低磷是一种罕见的先天性代谢错误。该疾病的特征是骨骼矿化和牙列缺损。在TNSALP基因中发现了各种形式的低磷血症突变。由于先前报道的TNSALP基因中的致病性化合物杂合突变，我们报道了首例中国的围生期低磷血症致死性死亡病例。并成功地在临床上应用于产前诊断测试。作者强调了对遗传性咨询的胎儿发育异常的胎儿表现进行准确诊断的重要性，并讨论了其鉴别诊断。

著录项

来源
《Hong Kong Journal of Paediatrics》 |2006年第4期|共6页
作者
ACF Lam; CW Lam; MHY Tang; JWY Chu; STS Lam;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种
中图分类儿科学;
关键词

相似文献

外文文献
中文文献
专利

1. Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers. [J] . Ozono K, Michigami T Journal of human genetics . 2011,第3期

机译：低磷血症现在引起临床医生和研究人员的更多关注：关于c患病率的评论。 ALPL中的1559delT，这是一种常见突变，在日语中会导致围生期（致命）形式的低磷状态，并且该突变对杂合子携带者有影响。
2. A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. [J] . Brun-Heath I, Chabrol E, Fox M, Clinical Genetics: An International Journal of Genetics in Medicine . 2008,第3期

机译：一例致命的低磷血症为围产期低磷血症的良性形式和ALPL基因的表达提供了新的见解。
3. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. [J] . Watanabe A, Karasugi T, Sawai H, Journal of human genetics . 2011,第2期

机译：c.1559delT在ALPL中的流行，ALPL是一种常见突变，在日语中会导致围生期（致命）形式的低磷血症，并且该突变对杂合子携带者有影响。
4. Effective Methods of Engineering Information Literacy: Initial Steps of a Systematic Literature Review and Observations About the Literature [C] . Margaret Phillips, Amy S. Van Epps, Nastasha E. Johnson, American Society for Engineering Education Annual Conference and Exposition . 2019

机译：工程信息素养的有效方法：系统文献审查和关于文献的观察的初步步骤
5. Synthesizing Prior Information Systems Research: Three Essays on the Methods and Applications of Literature Reviews [D] . Templier, Mathieu 2015

机译：综合现有信息系统研究：三篇论文评论方法和应用的论文
6. A case of perinatal hypophosphatasia with a novel mutation in theALPL gene: clinical course and review of the literature [O] . Maki Oyachi, Daisuke Harada, Natsuko Sakamoto, 2018

机译：一例围产期低磷性伴新发突变的病例ALPL基因：临床过程和文献复习
7. 35 PERINATAL LETHAL FORM OF HYPOPHOSPHATASIA [O] . Begüm Atasay, Ayla Günlemez, Sevim Ünal Kızılateş, 2015

机译：35嗜酸性粒细胞癌的形式

A Case of Perinatal Lethal Form of Hypophosphatasia; and Review of Literatures

摘要

著录项

相似文献

相关主题

期刊订阅