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Early diagnosis of Duchenne muscular dystrophy - A Treat-NMD international workshop.

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第一作者： M,Lorentzos

第一单位： Department of Neurology and Neurosurgery, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia; Faculty of Medicine and Health, Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia. Electronic address: Michelle.lorentzos@health.nsw.gov.au.

作者： M,Lorentzos ^[1] ; J A,Parsons ^[2] ; K J,Jones ^[3] ; L,Servais ^[4] ; Treat NMD Early Diagnosis Workshop Participants

作者单位： Department of Neurology and Neurosurgery, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia; Faculty of Medicine and Health, Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia. Electronic address: Michelle.lorentzos@health.nsw.gov.au. ^[1] Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA. ^[2] Faculty of Medicine and Health, Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Department of Clinical Genetics, The Sydney Children's Hospitals Network,, Sydney, New South Wales, Australia. ^[3] Department of Paediatrics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK; Department of Pediatrics, Division of Child Neurology Reference Center for Neuromuscular Disease, University Hospital of Liège & University of La Citadelle, Liège, Belgium; Division of Child Neurology, Department of Pediatrics, Centre de Référence des Maladies Neuromusculaires, University Hospital Liège and University of Liège, Liège, Belgium. ^[4]

关键词 Duchenne muscular dystrophy Dystrophinopathy Newborn screening

医学主题词肌营养不良, 杜氏(Muscular Dystrophy, Duchenne);人类(Humans);早期诊断(Early Diagnosis);男(雄)性(Male);婴儿(Infant)

DOI 10.1016/j.nmd.2024.104467

PMID 39427485

发布时间 2026-03-23

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