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Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Keller, Natalie; Mendoza-Ferreira, Natalia; Maroofian, Reza; Chelban, Viorica; Khalil, Youssef; Mills, Philippa B; Boostani, Reza; Torbati, Paria Najarzadeh; Karimiani, Ehsan Ghayoor; Thiele, Holger; Houlden, Henry; Wirth, Brunhilde; Karakaya, Mert.
Afiliação
  • Keller N; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Mendoza-Ferreira N; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Maroofian R; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Chelban V; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Toma Ciorba 1, 2052 Chisinau, Republic of Moldova.
  • Khalil Y; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.
  • Mills PB; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.
  • Boostani R; Neurology Dept., Ghaem Hospital, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Torbati PN; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran.
  • Karimiani EG; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran.
  • Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Houlden H; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany. Electronic address: mert.karakaya@uk-koeln.de.
Neuromuscul Disord ; 30(7): 583-589, 2020 07.
Article em En | MEDLINE | ID: mdl-32522499
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polineuropatias / Fosfato de Piridoxal / Atrofia Óptica / Fosfotransferases (Aceptor do Grupo Álcool) / Vitamina B 6 Tipo de estudo: Prognostic_studies / Screening_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polineuropatias / Fosfato de Piridoxal / Atrofia Óptica / Fosfotransferases (Aceptor do Grupo Álcool) / Vitamina B 6 Tipo de estudo: Prognostic_studies / Screening_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido