DC 欄位 | 值 | 語言 |
dc.contributor | 臺大醫院-小兒部;臺大醫院-外科部;臺大醫院-核子醫學部;臺大醫院-神經部;臺大醫院-基因醫學部;臺大醫學院; | en |
dc.contributor.author | Hwu, Wuh-Liang | en |
dc.contributor.author | Muramatsu, Shin-ichi | en |
dc.contributor.author | Tseng, Sheng-Hong | en |
dc.contributor.author | Tzen, Kai-Yuan | en |
dc.contributor.author | Lee, Ni-Chung | en |
dc.contributor.author | Chien, Yin-Hsiu | en |
dc.contributor.author | Snyder, Richard O. | en |
dc.contributor.author | Byrne, Barry J. | en |
dc.contributor.author | Tai, Chun-Hwei | en |
dc.contributor.author | Wu, Ruey-Meei | en |
dc.creator | Hwu, Wuh-Liang;Muramatsu, Shin-ichi;Tseng, Sheng-Hong;Tzen, Kai-Yuan;Lee, Ni-Chung;Chien, Yin-Hsiu;Snyder, Richard O.;Byrne, Barry J.;Tai, Chun-Hwei;Wu, Ruey-Meei | en |
dc.creator | 曾勝弘 ;胡務亮 ;戴春暉 ;曾凱元 ;李妮鍾 ;簡穎秀 ;吳瑞美 | zh-tw |
dc.date | 2012 | en |
dc.date.accessioned | 2014-02-14T08:42:58Z | - |
dc.date.accessioned | 2018-07-11T18:28:01Z | - |
dc.date.available | 2014-02-14T08:42:58Z | - |
dc.date.available | 2018-07-11T18:28:01Z | - |
dc.date.issued | 2012 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/259613 | - |
dc.description.abstract | Aromatic L-amino acid decarboxylase (AADC) is required for the synthesis of the neurotransmitters dopamine and serotonin. Children with defects in the AADC gene show compromised development, particularly in motor function. Drug therapy has only marginal effects on some of the symptoms and does not change early childhood mortality. Here, we performed adeno-associated viral vector-mediated gene transfer of the human AADC gene bilaterally into the putamen of four patients 4 to 6 years of age. All of the patients showed improvements in motor performance: One patient was able to stand 16 months after gene transfer, and the other three patients achieved supported sitting 6 to 15 months after gene transfer. Choreic dyskinesia was observed in all patients, but this resolved after several months. Positron emission tomography revealed increased uptake by the putamen of 6-[F-18] fluorodopa, a tracer for AADC. Cerebrospinal fluid analysis showed increased dopamine and serotonin levels after gene transfer. Thus, gene therapy targeting primary AADC deficiency is well tolerated and leads to improved motor function. | en |
dc.format.extent | 110 bytes | - |
dc.format.mimetype | text/html | - |
dc.language | en-us | en |
dc.relation | Sci. Transl. Med., 4(134) | en |
dc.relation.ispartof | Neurosurgery | en_US |
dc.subject.classification | [SDGs]SDG3 | - |
dc.title | Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency | en |
dc.identifier.doi | 10.1227/01.neu.0000419706.72039.5c | - |
dc.relation.pages | N10-N12 | - |
dc.identifier.uri.fulltext | http://ntur.lib.ntu.edu.tw/bitstream/246246/259613/1/index.html | - |
item.fulltext | with fulltext | - |
item.grantfulltext | open | - |
顯示於: | 醫學系
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