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. |
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| 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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