Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism

Okulu E; Tunc G; Eminoglu T; Erdeve O; Atasay B; Arsan S

首页> 外文期刊>Balkan journal of medical genetics: BJMG >Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism

【24h】

Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism

机译：新生儿半乳唾液中毒伴CTSA基因新突变，表现为短暂性甲状旁腺功能亢进

获取原文

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A (CTSA) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. We report an early infantile form of galactosialidosis in a newborn with a novel mutation on the CTSA gene.

机译：半乳糖唾液酸中毒是一种溶酶体贮积病，由保护蛋白的缺乏引起，该保护蛋白由位于染色体20q13.1上的组织蛋白酶A（CTSA）基因编码。该基因的突变是半乳糖唾液酸中毒的原因，导致保护蛋白功能的丧失。半乳糖唾液酸中毒是一种常染色体隐性遗传疾病，根据发病年龄和临床表现的严重程度分为三类。我们报告了在CTSA基因上的一种新型突变的新生儿中的半乳唾液酸中毒的早期婴儿形式。

著录项

来源
《Balkan journal of medical genetics: BJMG》 |2017年第2期|共3页
作者
Okulu E; Tunc G; Eminoglu T; Erdeve O; Atasay B; Arsan S;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种
中图分类遗传学;
关键词
MedicineBasic Medical ScienceBasic Medical Scienceother;

机译：医学基础医学基础其他;

相似文献

外文文献
中文文献
专利

1. GALACTOSIALIDOSIS IN A NEWBORN WITH A NOVEL MUTATION IN THE CTSA GENE PRESENTING WITH TRANSIENT HYPERPARATHYROIDISM [J] . Okulu E., Tunc G., Eminoglu T., Balkan journal of medical genetics: BJMG . 2017,第2期

机译：新生儿在新生儿中具有新出生的CTSA基因的新生儿，呈现出瞬态甲状旁腺功能亢进症
2. Galactosialidosis: review and analysis of CTSA gene mutations [J] . Anna Caciotti, Serena Catarzi, Rodolfo Tonin, Orphanet journal of rare diseases . 2013,第1期

机译：半乳唾液酸中毒：CTSA基因突变的审查和分析
3. A new heterozygous compound mutation in the CTSA gene in galactosialidosis [J] . Hideki Nakajima, Miki Ueno, Kaori Adachi, Human genome variation. . 2019,第1期

机译：半乳糖唾液酸中毒CTSA基因中一个新的杂合复合突变
4. Transient voltage distribution and interturn voltages in a generator during the commutation of a thyristor bridge load [C] . Kunakorn, A., Hiley, Electrical Machines and Drives, 1999. Ninth International Conference on (Conf. Publ. No. 468) . 1999

机译：晶闸管桥负载换向期间发电机中的瞬态电压分布和匝间电压
5. EVIDENCE FOR UNRELATED MULTIPLE-GENE MUTATIONS AS THE CAUSE OF A HYDROCEPHALUS SYNDROME IN NEWBORN CALVES. [D] . NUSS, JUDITH IOLA LACAGNIN. 1965

机译：无关的多基因突变的证据，为新生犊牛中的水CE综合症。
6. Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism [O] . E Okulu M.D., G Tunc, T Eminoglu, 2017

机译：暂时性甲状旁腺功能亢进症的CTSA基因新突变的新生儿半乳唾液中毒。
7. Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism [O] . E Okulu, G Tunc, T Eminoglu, 2017

机译：新生儿在新生儿中具有新出生的CTSA基因的新生儿，呈现出瞬态甲状旁腺功能亢进症

Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism

摘要

著录项

相似文献

相关主题

期刊订阅