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RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
Phadke, Rahul; Hedberg-Oldfors, Carola; Scalco, Renata S; Lowe, David M; Ashworth, Michael; Novelli, Marco; Vara, Roshni; Merwick, Aine; Amer, Halima; Sofat, Reecha; Sugarman, Max; Jovanovic, Ana; Roberts, Mark; Nakou, Vasiliki; King, Andrew; Bodi, Istvan; Jungbluth, Heinz; Oldfors, Anders; Murphy, Elaine.
Afiliação
  • Phadke R; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.
  • Hedberg-Oldfors C; MRC Centre for Neuromuscular Diseases, University College London, Queen Square, London, UK.
  • Scalco RS; Division of Neuropathology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Lowe DM; Department of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • Ashworth M; MRC Centre for Neuromuscular Diseases, University College London, Queen Square, London, UK.
  • Novelli M; CAPES Foundation, Ministry of Education of Brazil, Brasilia DF, Brazil.
  • Vara R; Department of Immunology, Royal Free Hospital, London, UK and Institute of Immunity and Transplantation, University College London, Royal Free Campus, London, UK.
  • Merwick A; Department of Histopathology, Great Ormond Street Hospital, London, UK.
  • Amer H; Department of Histopathology, University College London NHS Foundation Trust, London, UK.
  • Sofat R; Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK.
  • Sugarman M; Department of Neurology, Beaumont Hospital, Dublin, Ireland.
  • Jovanovic A; Department of Clinical Pharmacology, University College London NHS Foundation Trust, London, UK.
  • Roberts M; Department of Clinical Pharmacology, University College London NHS Foundation Trust, London, UK.
  • Nakou V; Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
  • King A; Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
  • Bodi I; Great Manchester Neurosciences Unit, Salford Royal NHS Foundation Trust, Salford, UK.
  • Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK.
  • Oldfors A; Department of Clinical Neuropathology, King's College Hospital, London, UK.
  • Murphy E; Department of Clinical Neuropathology, King's College Hospital, London, UK.
J Inherit Metab Dis ; 43(5): 1002-1013, 2020 09.
Article em En | MEDLINE | ID: mdl-32187699
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Doença de Depósito de Glicogênio / Ubiquitina-Proteína Ligases / Glucanos Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Doença de Depósito de Glicogênio / Ubiquitina-Proteína Ligases / Glucanos Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article