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Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Sabanathan, Saraswathy; Gulhane, Deepti; Mankad, Kshitij; Davison, James; Ong, Min Tsui; Phadke, Rahul; Robinson, Robert; Spiller, Michael; Wakeling, Emma; Ramdas, Sithara; Brady, Angela F; Balasubramanian, Meena; Munot, Pinki.
Afiliação
  • Sabanathan S; Department of Neurosciences, Evelina Children's Hospital, London, UK.
  • Gulhane D; Department of Neurology, Great Ormond Street Hospital NHS Trust, London, UK.
  • Mankad K; Department of neuroradiology, Great Ormond Street Hospital NHS Trust, London, UK.
  • Davison J; Department of Metabolic Medicine, Great Ormond Street Hospital NHS Trust, London, UK.
  • Ong MT; Department of Neurology, Sheffield Children's Hospital NHS Foundation Trust, London, UK.
  • Phadke R; Department of Neuropathology, Institute of Neurology, Queen Square, London, UK.
  • Robinson R; Department of Neurology, Great Ormond Street Hospital NHS Trust, London, UK.
  • Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital NHS Trust, London, UK.
  • Ramdas S; MDUK neuromuscular centre, Department of Paediatrics, University of Oxford, UK; Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK.
  • Brady AF; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Middlesex, HA1 3UJ, UK.
  • Balasubramanian M; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. Electronic address: m.balasubramanian@sheffield.ac.uk.
  • Munot P; Department of Neurology, Great Ormond Street Hospital NHS Trust, London, UK. Electronic address: Pinki.Munot@gosh.nhs.uk.
Neuromuscul Disord ; 33(1): 50-57, 2023 01.
Article em En | MEDLINE | ID: mdl-36522252
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Leucomalácia Periventricular / Proteínas Serina-Treonina Quinases Limite: Child / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Leucomalácia Periventricular / Proteínas Serina-Treonina Quinases Limite: Child / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido