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BSH19‐PO‐132 : Glucophosphate isomerase deficiency identified by next‐generation sequencing

Researchers

Presenter

  • S.M. Vora

Principal Investigators

  • M. Proven

  • R. Hipkiss

  • P. Ware

  • K. Howard

  • H. Dreau

  • S. Baird

  • W. Ouwehand

  • K. Megy

  • K. Stirrups

  • D. Lim

  • A. Norton

  • A. Kumar

  • I. Roberts

  • M. Layton

  • N. Roy

Medical Centers

  • Dept of Haematology, Oxford University Hospitals NHS Foundation Trust

  • Molecular Haematology Unit

  • Oxford Molecular Diagnostic Centre, Oxford

  • Department of Paediatric Haematology, Royal Hospital for Sick Children, Edinburgh Imperial College Healthcare NHS Trust, Edinburgh

  • Wellcome Sanger Institute, Cambridge, UK

  • West Midlands Regional Clinical Genetics Service

  • Department of Pediatric Rheumatology

  • Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham

  • Weatherall Institute of Molecular Medicine and Oxford Cancer Centre, Oxford, United Kingdom

  • Department of Haematology, Imperial College London, Hammersmith Hospital, London, United Kingdom

Locations

  • United Kingdom

Companies

  • N/A

Study Components

Therapeutic Area

  • Gastroenterology (GU)

  • Genetic Disorder

Disease

  • Glucophosphate isomerase deficiency

  • Hyperbilirubinemia

Biomarkers

  • Glycosylphosphatidylinositol

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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