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一例以多发性骨破坏为显著特征的老年戈谢病的诊疗和基因检测分析
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作者 秦姝超 尹华 +3 位作者 王蓉 朱飞鹏 李建勇 卢瑞南 《遗传》 CAS CSCD 北大核心 2023年第3期261-269,共9页
戈谢病(Gaucher’s disease)是一种罕见的常染色体隐性遗传病,由于葡萄糖脑苷脂酶(glucocerebrosidase,GBA)基因突变导致溶酶体中GBA活性降低或缺乏,造成其底物葡萄糖脑苷脂在溶酶体中贮积,产生肝、脾、肾、骨、造血系统甚至神经系统受... 戈谢病(Gaucher’s disease)是一种罕见的常染色体隐性遗传病,由于葡萄糖脑苷脂酶(glucocerebrosidase,GBA)基因突变导致溶酶体中GBA活性降低或缺乏,造成其底物葡萄糖脑苷脂在溶酶体中贮积,产生肝、脾、肾、骨、造血系统甚至神经系统受累的临床表现。本文报道1例以多发性骨破坏为显著特征的老年患者,伴有幼年脾切除及“骨髓炎”病史,呈现肝脏显著增大、贫血、血小板减少及骨量减少等症状。临床检测显示,患者外周血GBA活性降低、葡糖鞘氨醇水平以及壳三糖酶活性显著升高;基因检测结果表明,患者GBA基因发生纯合错义突变NM_001005741.2 c.770A>G(p.Asp257Gly)。经过6个月的酶替代治疗,患者血小板恢复正常、贫血改善、肝脏体积有所缩小。进一步检测发现患者母亲、长兄、次兄均存在该位点的杂合突变,符合孟德尔遗传规律。虽然患者Asp257Gly变异在已知的GBA基因变异库中未被报道,但无论是临床表现还是酶学及生物标记物特征,以及酶替代治疗的效果,均支持戈谢病的诊断,推断患者Asp257Gly纯合变异为临床致病性变异。本病例发现的新突变位点丰富了GBA基因的遗传变异数据库,同时本病例的诊治过程也为该类患者的早期识别并诊断以及尽早治疗提供了借鉴与参考。 展开更多
关键词 戈谢病 多发骨破坏 老年 葡萄糖脑苷脂酶基因
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Graphene-carbon nanotube hybrid films for high- performance flexible photodetectors 被引量:7
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作者 Yujie Liu Yuanda Liu +3 位作者 shuchao qin Yongbing Xu Rong Zhang Fengqiu Wang 《Nano Research》 SCIE EI CAS CSCD 2017年第6期1880-1887,共8页
Graphene is being actively explored as a candidate material for flexible and stretchable devices. However, the development of graphene-based flexible photonic devices, i.e. photodetectors, is hindered by the low absor... Graphene is being actively explored as a candidate material for flexible and stretchable devices. However, the development of graphene-based flexible photonic devices, i.e. photodetectors, is hindered by the low absorbance of the single layer of carbon atoms. Recently, van der Waals bonded carbon nanotube and graphene hybrid films have demonstrated excellent photoresponsivity, and the use of vein-like carbon nanotube networks resulted in significantly higher mechanical strength. Here, we report for the first time, a flexible photodetector with a high photoresponsivity of - 51 A/W and a fast response time of - 40 ms over the visible range, revealing the unique potential of this emerging all-carbon hybrid films for flexible devices. In addition, the device exhibits good robustness against repetitive bending, suggesting its applicability in large-area matrix-array flexible photodetectors. 展开更多
关键词 GRAPHENE carbon nanotube van der Waalsheterostructures flexible photodetector
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