國家衛生研究院 NHRI:Item 3990099045/13537
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    题名: Complex movement disorders in a boy with PURA syndrome
    作者: Lin, SJ;Lin, YF;Tsai, CH;Huang, CH;Ho, F;Tsai, SF;Lin, WS
    贡献者: Institute of Molecular and Genomic Medicine
    摘要: PURA syndrome is a severe neurodevelopmental disorder named after its causative gene, the purine-rich element-binding protein A gene. It is characterized by neonatal hypotonia, feeding and respiratory problems during infancy, global developmental delay, with or without seizures. Although a variety of movement disorders have been observed in some of these patients,they were less systematically investigated. Herein, we report on a pediatric patient with PURA syndrome featuring multiple types of involuntary movements during school age.
    日期: 2021-07
    關聯: Movement Disorders Clinical Practice. 2021 Jul 8;8(7):1137-1139.
    Link to: http://dx.doi.org/10.1002/mdc3.13272
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=2330-1619&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000670633000001
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85109735746
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