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Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Authors

  • Arunabha Ghosh Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK Divison of Evolution and Genomic Sciences, School of Biology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Helene Schlecht Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Lesley E Heptinstall Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • John K Bassett Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Eleanor Cartwright Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Sanjeev S Bhaskar Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Jill Urquhart Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Alexander Broomfield Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Andrew AM Morris Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Elisabeth Jameson Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Bernd C Schwahn Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • John H Walter Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Sofia Douzgou Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK Divison of Evolution and Genomic Sciences, School of Biology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Helen Murphy Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Chris Hendriksz Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK Department of Paediatrics and Child Health, Steve Biko Academic Unit, University of Pretoria, Pretoria, South Africa PubMed articlesGoogle scholar articles
  • Reena Sharma Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK PubMed articlesGoogle scholar articles
  • Gisela Wilcox Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK PubMed articlesGoogle scholar articles
  • Ellen Crushell National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Ardeshir A Monavari National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Richard Martin Institute of Human Genetics, The International Centre For Life, Newcastle, UK PubMed articlesGoogle scholar articles
  • Anne Doolan Cork University Maternity Hospital, Cork, Ireland PubMed articlesGoogle scholar articles
  • Senthil Senniappan Department of Endocrinology, Alder Hey Children’s Hospital, Liverpool, UK PubMed articlesGoogle scholar articles
  • Simon C Ramsden Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Simon A Jones Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK Divison of Evolution and Genomic Sciences, School of Biology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Siddharth Banka Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK Divison of Evolution and Genomic Sciences, School of Biology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Siddharth Banka, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester M13 9WL, UK; siddharth.banka{at}manchester.ac.uk
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Citation

Ghosh A, Schlecht H, Heptinstall LE, et al
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Archives of Disease in Childhood 2017;102:1019-1029.
Online issue publication 
November 14, 2017

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.