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PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban, Viorica; Wilson, Matthew P; Warman Chardon, Jodi; Vandrovcova, Jana; Zanetti, M Natalia; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A; Botía, Juan A; Ryten, Mina; Nicolaou, Paschalis; Minaidou, Anna; Christodoulou, Kyproula; Kernohan, Kristin D; Eaton, Alison; Osmond, Matthew; Ito, Yoko; Bourque, Pierre; Jepson, James E C; Bello, Oscar; Bremner, Fion; Cordivari, Carla; Reilly, Mary M; Foiani, Martha; Heslegrave, Amanda; Zetterberg, Henrik; Heales, Simon J R; Wood, Nicholas W; Rothman, James E; Boycott, Kym M; Mills, Philippa B; Clayton, Peter T; Houlden, Henry.
Afiliación
  • Chelban V; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Wilson MP; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Moldova.
  • Warman Chardon J; Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Vandrovcova J; Department of Medicine (Neurology), University of Ottawa, Ottawa, Ontario, Canada.
  • Zanetti MN; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
  • Zamba-Papanicolaou E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Efthymiou S; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Pope S; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Conte MR; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Abis G; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Liu YT; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Tribollet E; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
  • Haridy NA; Randall Centre of Cell and Molecular Biophysics, School of Basic and Medical Biosciences, King's College London, London, United Kingdom.
  • Botía JA; Randall Centre of Cell and Molecular Biophysics, School of Basic and Medical Biosciences, King's College London, London, United Kingdom.
  • Ryten M; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Nicolaou P; National Yang-Ming University School of Medicine, Taipei, Taiwan.
  • Minaidou A; Institute of Brain Science, National Yang-Ming University, Taipei, Taiwan.
  • Christodoulou K; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Kernohan KD; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Eaton A; Department of Neurology and Psychiatry, Assiut University Hospital, Faculty of Medicine, Asyut, Egypt.
  • Osmond M; Reta Lila Weston Research Laboratories, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Ito Y; Department of Information and Communications Engineering, University of Murcia, Murcia, Spain.
  • Bourque P; Reta Lila Weston Research Laboratories, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Jepson JEC; Department of Medical & Molecular Genetics, King's College London, Guy's Hospital, London, United Kingdom.
  • Bello O; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Bremner F; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Cordivari C; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Reilly MM; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Foiani M; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Heslegrave A; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Zetterberg H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Heales SJR; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Wood NW; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Rothman JE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Mills PB; Department of Medicine (Neurology), University of Ottawa, Ottawa, Ontario, Canada.
  • Clayton PT; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
  • Houlden H; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, United Kingdom.
Ann Neurol ; 86(2): 225-240, 2019 08.
Article en En | MEDLINE | ID: mdl-31187503
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polineuropatías / Piridoxal Quinasa / Fosfato de Piridoxal / Complejo Vitamínico B / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polineuropatías / Piridoxal Quinasa / Fosfato de Piridoxal / Complejo Vitamínico B / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido