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Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome.

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Title: Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome.
Authors: Yau ML; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG.; Clinical Genetics Service Unit, Prince of Wales Hospital, Sha Tin, HKG., Beck C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, AUS., Fung EL; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG., Yiu EM; Neurology, The Royal Children's Hospital, Melbourne, AUS.; Neurosciences Research, Murdoch Children's Research Institute, Melbourne, AUS.; Paediatrics, The University of Melbourne, Melbourne, AUS., Tewierik C; Physiotherapy, The Royal Children's Hospital, Melbourne, AUS., Leung CH; Physiotherapy, Prince of Wales Hospital, Sha Tin, HKG., Cheung HM; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG., Yam KK; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG., Wong KN; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG., O'Neill TS; Neurology, The Royal Children's Hospital, Melbourne, AUS., Howell KB; Neurology, The Royal Children's Hospital, Melbourne, AUS.; Neurosciences Research, Murdoch Children's Research Institute, Melbourne, AUS.; Paediatrics, The University of Melbourne, Melbourne, AUS., Chong SC; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG.; Centre of Medical Genetics, Joint Baylor-CUHK, The Chinese University of Hong Kong, Shatin, HKG.
Source: Cureus [Cureus] 2026 Jul 16; Vol. 18 (7), pp. e112808. Date of Electronic Publication: 2026 Jul 16 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Yau+ML%22">Yau ML</searchLink>; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG.; Clinical Genetics Service Unit, Prince of Wales Hospital, Sha Tin, HKG.<br /><searchLink fieldCode="AU" term="%22Beck+C%22">Beck C</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, AUS.<br /><searchLink fieldCode="AU" term="%22Fung+EL%22">Fung EL</searchLink>; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG.<br /><searchLink fieldCode="AU" term="%22Yiu+EM%22">Yiu EM</searchLink>; Neurology, The Royal Children's Hospital, Melbourne, AUS.; Neurosciences Research, Murdoch Children's Research Institute, Melbourne, AUS.; Paediatrics, The University of Melbourne, Melbourne, AUS.<br /><searchLink fieldCode="AU" term="%22Tewierik+C%22">Tewierik C</searchLink>; Physiotherapy, The Royal Children's Hospital, Melbourne, AUS.<br /><searchLink fieldCode="AU" term="%22Leung+CH%22">Leung CH</searchLink>; Physiotherapy, Prince of Wales Hospital, Sha Tin, HKG.<br /><searchLink fieldCode="AU" term="%22Cheung+HM%22">Cheung HM</searchLink>; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG.<br /><searchLink fieldCode="AU" term="%22Yam+KK%22">Yam KK</searchLink>; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG.<br /><searchLink fieldCode="AU" term="%22Wong+KN%22">Wong KN</searchLink>; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG.<br /><searchLink fieldCode="AU" term="%22O'Neill+TS%22">O'Neill TS</searchLink>; Neurology, The Royal Children's Hospital, Melbourne, AUS.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Neurology, The Royal Children's Hospital, Melbourne, AUS.; Neurosciences Research, Murdoch Children's Research Institute, Melbourne, AUS.; Paediatrics, The University of Melbourne, Melbourne, AUS.<br /><searchLink fieldCode="AU" term="%22Chong+SC%22">Chong SC</searchLink>; Paediatrics, The Chinese University of Hong Kong, Sha Tin, HKG.; Centre of Medical Genetics, Joint Baylor-CUHK, The Chinese University of Hong Kong, Shatin, HKG.
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  Data: <searchLink fieldCode="JN" term="%22101596737%22">Cureus</searchLink> [Cureus] 2026 Jul 16; Vol. 18 (7), pp. e112808. <i>Date of Electronic Publication: </i>2026 Jul 16 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cureus%2C+Inc%22">Cureus, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101596737 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2168-8184 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221688184%22">21688184 </searchLink><i>NLM ISO Abbreviation: </i>Cureus <i>Subsets: </i>PubMed not MEDLINE
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