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

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GALACTOSIALIDOSIS IN A NEWBORN WITH A NOVEL MUTATION IN THE CTSA GENE PRESENTING WITH TRANSIENT HYPERPARATHYROIDISM

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

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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：半乳糖型病症是由染色体20Q13.1染色体局部化的组织蛋白酶A（CTSA）基因编码的保护蛋白缺乏引起的溶酶体储存疾病。该基因的突变是半乳突性疾病的原因，导致保护蛋白功能丧失。半乳糖型病是一种常染色体隐性遗传性疾病，并根据发病年龄和临床表现的严重程度分为三个亚型。我们在新生儿中报告了一种早期的半乳糖型病变，在CTSA基因上进行了一种新生种的新生儿。

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《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.;
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作者单位

Ankara Univ Sch Med Div Neonatol Dept Pediat Tip Fak St TR-06620 Ankara Turkey;

Ankara Univ Sch Med Div Neonatol Dept Pediat Tip Fak St TR-06620 Ankara Turkey;

Ankara Univ Sch Med Div Pediat Metab Dept Pediat Ankara Turkey;

Ankara Univ Sch Med Div Neonatol Dept Pediat Tip Fak St TR-06620 Ankara Turkey;

Ankara Univ Sch Med Div Neonatol Dept Pediat Tip Fak St TR-06620 Ankara Turkey;

Ankara Univ Sch Med Div Neonatol Dept Pediat Tip Fak St TR-06620 Ankara Turkey;

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正文语种 eng
中图分类遗传学;
关键词
Galactosialidosis; Hyperparathyroidism; Newborn;

机译：半乳糖型病;甲状旁腺功能亢进;新生儿;

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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
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

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