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Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.
Oliwa, Agata; Langlands, Gavin; Sarkozy, Anna; Munot, Pinki; Stewart, Willie; Phadke, Rahul; Topf, Ana; Straub, Volker; Duncan, Roderick; Wigley, Ralph; Petty, Richard; Longman, Cheryl; Farrugia, Maria Elena.
Affiliation
  • Oliwa A; Undergraduate Medical School, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Electronic address: agata.oliwa@newcastle.a
  • Langlands G; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
  • Sarkozy A; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.
  • Munot P; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.
  • Stewart W; Department of Neuropathology, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
  • Phadke R; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, WC1N 3BG, UK.
  • Topf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.
  • Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.
  • Duncan R; Department of Orthopaedics, Royal Hospital for Sick Children, Glasgow, G51 4TF, UK.
  • Wigley R; Department of Chemical Pathology, Great Ormond Street Hospital Trust, London, WC1N 3JH, UK.
  • Petty R; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
  • Longman C; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK.
  • Farrugia ME; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Neuromuscul Disord ; 33(9): 98-105, 2023 09.
Article in En | MEDLINE | ID: mdl-37598009
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Glycogen Storage Disease Type IV Type of study: Diagnostic_studies Limits: Humans / Newborn Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2023 Document type: Article Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Glycogen Storage Disease Type IV Type of study: Diagnostic_studies Limits: Humans / Newborn Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2023 Document type: Article Country of publication: