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3-羟基-3-甲基戊二酸尿症一家系 被引量：6

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摘要 先证者男,年龄25 d,因新生儿干血滤纸片串联质谱筛查发现酰基肉碱指标异常召回,于2013年1月23日在浙江大学医学院附属儿童医院遗传代谢科门诊初诊.患儿为母亲第四胎,足月顺产,出生体重3 600 g,无窒息抢救史,生后母乳喂养,吃奶可,无吐奶,大小便正常. 家族史：患儿母亲孕4产4,父母体健,均为汉族、江西籍,非近亲结婚.父母及其祖父母二代中无猝死者,但患儿有3个兄姐在婴儿期不明原因突然死亡,出生时均正常,两女一男.
作者 洪芳 黄新文 童凡 杨建滨 杨茹莱 周雪莲 黄晓磊 毛华庆 赵正言
机构地区 浙江大学医学院附属儿童医院遗传代谢科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2014年第5期397-399,共3页 Chinese Journal of Pediatrics
基金 国家自然科学基金（81172681） 浙江省科技厅（2010R50045）
关键词 浙江大学医学院 家系 羟基 串联质谱 遗传代谢 儿童医院 足月顺产 出生体重
分类号 R725.8 [医药卫生—儿科]
  • 相关文献

参考文献8

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二级参考文献37

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共引文献94

同被引文献17

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  • 3Puisac B, Arnedo M, Casale CH, et al. Differential I--IMG-CoA lyase expression in human tissues provides clues about 3-hydrox- y-3-methylglutaricaciduria[J]. J Inherit Metab Dis, 2010, 33 (4) :405-410.
  • 4Puisac B, Ramos M, Amedo M, et al. Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoAsynthase, the main enzymes of the ketogen- esis pathway [J].Mol Biol Rep ,2012,39 (4) :4777-4785.
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  • 6Santarelli F, Cassanello M, Enea A, et al. A neonatal case of 3- hydroxy-3-methylglutaric-coenzyme A lyase deficiency [ J ]. Ital J Pediatr,2013,39( 1 ) :33.
  • 7马艳艳,宋金青,吴桐菲,刘玉鹏,肖江喜,姜玉武,杨艳玲.迟发型3-羟基-3-甲基戊二酸尿症导致脑白质病[J].中国当代儿科杂志,2011,13(5):392-395. 被引量：5
  • 8杨艳玲,张月华,袁向东,戚豫,张致祥,秦炯,孙德荣,顾强,米春兰.甲基丙二酸血症的诊断与治疗分析[J].中华围产医学杂志,2000,3(1):30-32. 被引量：46
  • 9刘玉鹏,马艳艳,吴桐菲,王峤,李溪远,丁圆,宋金青,黄昱,杨艳玲.早发型甲基丙二酸尿症160例新生儿期异常表现[J].中华儿科杂志,2012,50(6):410-414. 被引量：83
  • 10江敏妍,刘丽,李秀珍,程静,蔡燕娜,彭敏芝.气相色谱-质谱联用技术在3-羟基-3-甲基戊二酸尿症诊断中的应用[J].实用儿科临床杂志,2012,27(20):1557-1560. 被引量：2

引证文献6

二级引证文献52

中华儿科杂志
2014年 第5期

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