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Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E; Bassett, John K; Cartwright, Eleanor; Bhaskar, Sanjeev S; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew Am; Jameson, Elisabeth; Schwahn, Bernd C; Walter, John H; Douzgou, Sofia; Murphy, Helen; Hendriksz, Chris; Sharma, Reena; Wilcox, Gisela; Crushell, Ellen; Monavari, Ardeshir A; Martin, Richard; Doolan, Anne; Senniappan, Senthil; Ramsden, Simon C; Jones, Simon A; Banka, Siddharth.
Afiliación
  • Ghosh A; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Schlecht H; Divison of Evolution and Genomic Sciences, School of Biology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Heptinstall LE; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Bassett JK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Cartwright E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Bhaskar SS; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Urquhart J; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Broomfield A; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Morris AA; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Jameson E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Schwahn BC; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Walter JH; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Douzgou S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Murphy H; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Hendriksz C; Divison of Evolution and Genomic Sciences, School of Biology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Sharma R; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Wilcox G; Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
  • Crushell E; Department of Paediatrics and Child Health, Steve Biko Academic Unit, University of Pretoria, Pretoria, South Africa.
  • Monavari AA; Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
  • Martin R; Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
  • Doolan A; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Senniappan S; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Ramsden SC; Institute of Human Genetics, The International Centre For Life, Newcastle, UK.
  • Jones SA; Cork University Maternity Hospital, Cork, Ireland.
  • Banka S; Department of Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Arch Dis Child ; 102(11): 1019-1029, 2017 11.
Article en En | MEDLINE | ID: mdl-28468868
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Errores Innatos del Metabolismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Arch Dis Child Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Errores Innatos del Metabolismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Arch Dis Child Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido