单倍体联合脐血移植治疗X连锁肾上腺脑白质营养不良1例

来源 :广东省遗传学会第九届代表大会暨学术研讨会 | 被引量 : 0次 | 上传用户：galagala

【摘要】

：

目的：研究单倍体联合脐血移植治疗儿童早期脑型X连锁肾上腺脑白质营养不良的效果。方法：患儿男性,5岁,因发现血浆极长链脂肪酸异常升高8月于2013年8月入院。其哥哥在2013年4月因运动、智力倒退在我院经头颅MR、血浆极长链脂肪酸分析、ABCD1基因突变分析确诊为X-连锁肾上腺脑白质营养不良(X-ALD),儿童脑型晚期。

【作者】

：

江华刘丽程静李秀珍刘莎江敏妍蔡燕娜梁翠丽

【机构】

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广州市妇女儿童医疗中心遗传内分泌科,广州510623

【出处】

：

广东省遗传学会第九届代表大会暨学术研讨会

【发表日期】

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2014年11期

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单倍体联合脐血移植治疗X连锁肾上腺脑白质营养不良1例

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