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Clinica Chimica Acta：一种快速、简单的荧光三肽酶1 (TPP1)检测方法的有效性

2019-08-08 不详 MedSci原创

荧光三肽酶1
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<span lang="EN-US" style="font-size:12.0pt;mso-bidi-font-size: 14.0pt;font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;;mso-fareast-font-family:宋体; mso-bidi-font-family:&quot;Times New Roman&qu

CLN2病是一种溶酶体三肽酶1 (TPP1)功能障碍引起的遗传性疾病，属于神经蜡样脂褐病(NCL)，可导致癫痫、痴呆和年轻患者死亡。最近，CLN2疾病已经可以通过酶替代治疗，但只有在疾病早期诊断时才能有效。本研究了一种检测干血标本中TPP1缺失的检测CLN2疾病的可靠性。

在12年的时间里，研究人员已经收到了3882个测试TPP1的样品。通过测定另外两种溶酶体酶活性来检查样品的质量。通过对50个TPP1活性低下、样品质量较好的样品检测获得了足够的临床和分子遗传学数据。所有50名患者无疑都有CLN2疾病的证据（包括7名非典型患者），正如临床发现和已知致病性CLN2变异的存在所示。 该机构是NCL的主要参比实验中心，并从未收到有关正常DBS检测的患者后来被诊断患有CLN2疾病的信息。

研究人员认为DBS上的TPP1测试是一种可靠、方便和廉价的工具，可用于疑似CLN2疾病的第一个诊断步骤。

原始出处：

ZoltanLukacs,ZoltanLukacs,Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

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    2020-07-15 windight

    #CTA#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1849682, encodeId=68ca18496823e, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Jul 15 11:27:00 CST 2020, time=2020-07-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1707797, encodeId=60e81e0779705, content=<a href='/topic/show?id=bd958e237a6' target=_blank style='color:#2F92EE;'>#荧光#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=87237, encryptionId=bd958e237a6, topicName=荧光)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ae2931492970, createdName=ms6897892027066920, createdTime=Thu Jun 04 11:27:00 CST 2020, time=2020-06-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1685542, encodeId=4ec4168554280, content=<a href='/topic/show?id=69571454573' target=_blank style='color:#2F92EE;'>#PP1#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14545, encryptionId=69571454573, topicName=PP1)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=4f1028217817, createdName=ms9651749636653578, createdTime=Sat Apr 04 03:27:00 CST 2020, time=2020-04-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1457107, encodeId=b5f7145e10797, content=<a href='/topic/show?id=b7e86254347' target=_blank style='color:#2F92EE;'>#检测方法#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=62543, encryptionId=b7e86254347, topicName=检测方法)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8fe35841975, createdName=gracezdd, createdTime=Sat Aug 10 06:27:00 CST 2019, time=2019-08-10, status=1, ipAttribution=)]
    2020-06-04 ms6897892027066920

    #荧光#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1849682, encodeId=68ca18496823e, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Jul 15 11:27:00 CST 2020, time=2020-07-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1707797, encodeId=60e81e0779705, content=<a href='/topic/show?id=bd958e237a6' target=_blank style='color:#2F92EE;'>#荧光#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=87237, encryptionId=bd958e237a6, topicName=荧光)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ae2931492970, createdName=ms6897892027066920, createdTime=Thu Jun 04 11:27:00 CST 2020, time=2020-06-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1685542, encodeId=4ec4168554280, content=<a href='/topic/show?id=69571454573' target=_blank style='color:#2F92EE;'>#PP1#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14545, encryptionId=69571454573, topicName=PP1)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=4f1028217817, createdName=ms9651749636653578, createdTime=Sat Apr 04 03:27:00 CST 2020, time=2020-04-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1457107, encodeId=b5f7145e10797, content=<a href='/topic/show?id=b7e86254347' target=_blank style='color:#2F92EE;'>#检测方法#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=62543, encryptionId=b7e86254347, topicName=检测方法)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8fe35841975, createdName=gracezdd, createdTime=Sat Aug 10 06:27:00 CST 2019, time=2019-08-10, status=1, ipAttribution=)]
    2020-04-04 ms9651749636653578

    #PP1#

    0

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    2019-08-10 gracezdd

    #检测方法#

    0