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Clinica Chimica Acta：dolichol isoform profile在CDG疾病诊断中的新作用

2020-06-22 MedSci原创 MedSci原创

CDG疾病；诊断
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Dolichol是一种膜脂质，它携带单糖和多糖，内质网上发生n -连锁蛋白糖基化反应。

Dolichol是一种膜脂质，它携带单糖和多糖，内质网上发生n -连锁蛋白糖基化反应。近年来，一些类型的糖基化(CDG)先天性疾病被描述为多尔科尔生物合成和代谢缺陷的后果，但这些类型的CDG无法通过标准的筛选方法检测出来。本项目的目的是评估dolichol作为CDG生物标志物的潜力。

本研究的生物材料包括来自75名对照者、6名CDG患者和43名怀疑CDG患者的尿液样本;2例NUS1基因突变患者的额叶皮层、肝脏、肌肉和心脏组织的样本和对照组。采用液相色谱-串联质谱联用技术对多力高的分子物种进行了分析。

在对照组中，尿中dolichol 18与dolichol 19的比值(Dol18/Dol19)与年龄显著相关。我们从尿液样本中建立了Dol18/Dol19的参考范围。与对照组相比，NUS1突变患者的尿液和组织样本中Dol18/Dol19的比值均显著高于对照组。我们的结果显示了一种新的诊断选择的患者罕见的先天性疾病的糖基化。

原始出处：

L.ZdrazilovaL.KucharN.Ondruskova，A new role for dolichol isoform profile in the diagnostics of CDG disorders

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#插入话题
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    2021-05-23 zywlvao

    #疾病诊断#

    0

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    2020-09-28 1696533704_45270454

    #新作用#

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    2021-03-25 hunizi005

    #Profile#

    0

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    2021-03-07 windight

    #CTA#

    0

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    2020-06-24 diushouji

    #ICH#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1688680, encodeId=ecc31688680af, content=<a href='/topic/show?id=7dc0e0725aa' target=_blank style='color:#2F92EE;'>#疾病诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70725, encryptionId=7dc0e0725aa, topicName=疾病诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=e21828610836, createdName=zywlvao, createdTime=Sun May 23 04:12:04 CST 2021, time=2021-05-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1924145, encodeId=da681924145f7, content=<a href='/topic/show?id=794d5803930' target=_blank style='color:#2F92EE;'>#新作用#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=58039, encryptionId=794d5803930, topicName=新作用)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=24a22500182, createdName=1696533704_45270454, createdTime=Mon Sep 28 04:12:04 CST 2020, time=2020-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1791495, encodeId=524d1e914952c, content=<a href='/topic/show?id=11dc14e11b6' target=_blank style='color:#2F92EE;'>#Profile#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14711, encryptionId=11dc14e11b6, topicName=Profile)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=49ef408, createdName=hunizi005, createdTime=Thu Mar 25 01:12:04 CST 2021, time=2021-03-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849943, encodeId=803f184994364, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=19, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Sun Mar 07 12:12:04 CST 2021, time=2021-03-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1316381, encodeId=cd08131638135, content=<a href='/topic/show?id=f3789349c3' target=_blank style='color:#2F92EE;'>#ICH#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9349, encryptionId=f3789349c3, topicName=ICH)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c192448, createdName=diushouji, createdTime=Wed Jun 24 14:12:04 CST 2020, time=2020-06-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1602278, encodeId=b8ac16022e858, content=<a href='/topic/show?id=2f801469e57' target=_blank style='color:#2F92EE;'>#PRO#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14697, encryptionId=2f801469e57, topicName=PRO)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=a60b18898917, createdName=sunylz, createdTime=Wed Jun 24 14:12:04 CST 2020, time=2020-06-24, status=1, ipAttribution=)]
    2020-06-24 sunylz

    #PRO#

    0