journal1 ›› 2018, Vol. 26 ›› Issue (5): 579-580.DOI: 10.11852/zgetbjzz2018-26-05-32
Received:2017-09-28
Online:2018-05-10
Published:2018-05-10
冉霓1, 雷珂1, 单延春1, 马良1, 刘媛媛2
作者简介:冉霓(1965-),女,山东人,硕士学历,副教授,主要研究方向为儿童保健和儿童发育。
CLC Number:
冉霓, 雷珂, 单延春, 马良, 刘媛媛. 1例粘多糖贮积症Ⅱ型IDS基因的新发突变[J]. 中国儿童保健杂志, 2018, 26(5): 579-580.
| [1] Valayannopoulos V, Wijburg FA. Therapy for the mucopolysaccharidoses [J].Rheumatology (Oxford) , 2011,50 Suppl 5(12) : v49-v59. [2] 郭奕斌,杜传书. 中国广东Hunter 综合征患者的T1140C新突变[J]. 遗传,2006,28(5):521-524. [3] Scarpa M, Almássy Z, Beck M,et al. Mucopolysaccharidosis type Ⅱ: European recommendations for the diagnosis and multidisciplinary management of a rare disease[J]. Orphanet J Rare Dis, 2011,6(1):1-18. [4] Lualdi S, Regis S, Rocco MD, et al. Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis typeⅡ revealed by a rapid PCR-based method[J]. Hum Mutat, 2005, 25(5): 491-497. [5] Bondeson ML, Malmgren H, Dahl N, et al. Presence of an IDS related locus ( IDS2 ) in Xq28 complicates the mutational analysis of Hunter syndrome[J]. Eur J Hum Genet, 1995, 3(4):219-227. [6] Timms KM, Lu F, Shen Y, et al. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus[J]. Genome Res, 1995, 5(1):71-78. [7] Rathmann M, Bunge S, Beck M, et al. Mucopolysaccharidosis typeⅡ (Hunter syndrome): mutation “hot spots” in the iduronate-2-sulfatase gene[J]. Am J Hum Genet, 1996, 59(6) : 1202-1209. [8] 刘宁,孔祥东,吴庆华,等.八个黏多糖贮积症Ⅱ型家系IDS基因变异分析与产前诊断[J].中华围产医学杂志,2017,20(4):290-294. [9] 王伟.黏多糖贮积症Ⅱ型[M]//陈静.可治性罕见病.上海:上海交通大学出版社,2017:91-101. |
| [1] | XIANG Wei. Early prevention of dyslipidemia in children and adolescents as well as cardiovascular health in adulthood [J]. Chinese Journal of Child Health Care, 2023, 31(7): 697-702. |
| [2] | WU Ting, LI Fei. Adverse factors in early life and the development and prevention of chronic diseases [J]. Chinese Journal of Child Health Care, 2023, 31(7): 703-706. |
| [3] | LIU Min, ZHANG Qian, YANG Ting, CHEN Jie, CHEN Li, DAI Ying, JIA Feiyong, WU Lijie, HAO Yan, LI Ling, ZHANG Jie, KE Xiaoyan, YI Mingji, HONG Qi, CHEN Jinjin, FANG Shuanfeng, WANG Yichao, WANG Qi, JIN Chunhua, LI Tingyu. Multi-center survey on serum folic acid in preschool children in China [J]. Chinese Journal of Child Health Care, 2023, 31(7): 713-717. |
| [4] | HUO Yanyan, LIU Zhongling, MA Ling, WU Dan, WANG Xiulian, QIU Xiaoyan, DOU Jiaying, REN Yuqian, LI Yicheng, HONG Xia, CHEN Jinjin. Status quo and risk factors for different body proportions of children under 2 years old in the real world [J]. Chinese Journal of Child Health Care, 2023, 31(7): 718-723. |
| [5] | YANG Yuru, WANG Hong, XU Shuhong, CAO Yanmei, MENG Xian, GE Dongmei. Association between bone development and vitamin K in children aged 0 to 14 years [J]. Chinese Journal of Child Health Care, 2023, 31(7): 746-750. |
| [6] | LI Mingzhu, WANG Jing, XIE Duoshuang. Research progress in the relationship between rapid catch-up growth and childhood obesity in small for gestational age infants [J]. Chinese Journal of Child Health Care, 2023, 31(7): 751-755. |
| [7] | CAO Hui, YAN Shuangqin, GUAN Hongyan. Influence of parent-child interaction on early childhood development outcome [J]. Chinese Journal of Child Health Care, 2023, 31(7): 770-774. |
| [8] | SUN Yan, GUO Fei , CHEN Zhiyan. Chain mediating role of family home reading and mother-child intimacy in intergenerational transmission of emotion regulation strategy [J]. Chinese Journal of Child Health Care, 2023, 31(6): 606-611. |
| [9] | ZHOU Yuanke, LI Yueyue, FANG Bo, SHENG Lulu, WU Wenyi, XI Xuan, LIU Qin. Behavior changes and influencing factors of firstborn children before and after the birth of the second children in a district of Chongqing [J]. Chinese Journal of Child Health Care, 2023, 31(6): 617-622. |
| [10] | TIAN Tian, SONG Jia, LI Jing, YUAN Hui, SHEN Mengmeng, DING Rong, ZHU Xiaohua, XU Hongze, HU Youfang. Family rearing environment and behavior problems of the second child aged 4 to 6 years in Jiangsu Province [J]. Chinese Journal of Child Health Care, 2023, 31(6): 623-628. |
| [11] | WANG Ziyang, HU Lei, LIU Jintong. Associations between family relationship and children's sleep [J]. Chinese Journal of Child Health Care, 2023, 31(6): 640-644. |
| [12] | WANG Dan, HUANG Chuican, FAN Lichun. Research progress in the effects of responsive feeding on sleep of infants and young children [J]. Chinese Journal of Child Health Care, 2023, 31(6): 656-660. |
| [13] | YU Yabin, WANG Jianhong, XU Qi, WANG Lei, ZHOU Bo, ZHANG Lili, WANG Xi, WANG Lin. Influencing factors of children with developmental stuttering [J]. Chinese Journal of Child Health Care, 2023, 31(6): 674-677. |
| [14] | LIANG Yijia, WU Honglin, HE Xiumei, HU Xiaohong, HE Xiyu. Types and frequencies of gene variants in idiopathic short stature children [J]. Chinese Journal of Child Health Care, 2023, 31(6): 678-683. |
| [15] | YING Jiali, CHEN Xiuqin, YANG Chen, HUANG Limei, YU Yan, GAO Xuemei. Moderating role of personality traits in the influence of violent video games on adolescent aggressive behavior [J]. Chinese Journal of Child Health Care, 2023, 31(6): 684-688. |
| Viewed | ||||||
|
Full text |
|
|||||
|
Abstract |
|
|||||
