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Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Baruteau, Julien; Jameson, Elisabeth; Morris, Andrew A; Chakrapani, Anupam; Santra, Saikat; Vijay, Suresh; Kocadag, Huriye; Beesley, Clare E; Grunewald, Stephanie; Murphy, Elaine; Cleary, Maureen; Mundy, Helen; Abulhoul, Lara; Broomfield, Alexander; Lachmann, Robin; Rahman, Yusof; Robinson, Peter H; MacPherson, Lesley; Foster, Katharine; Chong, W Kling; Ridout, Deborah A; Bounford, Kirsten McKay; Waddington, Simon N; Mills, Philippa B; Gissen, Paul; Davison, James E.
Afiliação
  • Baruteau J; Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK. julien.baruteau@gosh.nhs.uk.
  • Jameson E; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK. julien.baruteau@gosh.nhs.uk.
  • Morris AA; Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK. julien.baruteau@gosh.nhs.uk.
  • Chakrapani A; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK.
  • Santra S; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK.
  • Vijay S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.
  • Kocadag H; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Beesley CE; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Grunewald S; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Murphy E; Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK.
  • Cleary M; North East Thames Regional Genetic Services, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Mundy H; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.
  • Abulhoul L; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Broomfield A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.
  • Lachmann R; Metabolic Medicine Department, Evelina Children's Hospital, London, UK.
  • Rahman Y; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.
  • Robinson PH; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.
  • MacPherson L; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK.
  • Foster K; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Chong WK; Metabolic Medicine Department, St Thomas Hospital, London, UK.
  • Ridout DA; Paediatric Metabolic Medicine, Royal Hospital for Sick Children, Glasgow, UK.
  • Bounford KM; Neuroradiology Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Waddington SN; Neuroradiology Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Mills PB; Neuroradiology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Gissen P; Population, Policy and Practice Programme, UCL Institute of Child Health, London, UK.
  • Davison JE; West Midlands Regional Genetic Laboratory, Birmingham Women's Hospital, Birmingham, UK.
J Inherit Metab Dis ; 40(3): 357-368, 2017 05.
Article em En | MEDLINE | ID: mdl-28251416
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidúria Argininossuccínica Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidúria Argininossuccínica Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos