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BSH2020‐PO‐159 : A retrospective laboratory assessment of the pyruvate kinase enzyme assay and analysis of 10 novel variants

Researchers

Presenter

  • C. Laas

Principal Investigators

  • B. Clark

  • T. Senior McKenzie

  • D. Rees

Medical Centers

  • Red Cell Centre, Viapath

  • Precision for Medicine

  • Department of Radiology, KingÂ’s College Hospital, London, UK

Locations

  • United Kingdom

Companies

  • N/A

Study Components

Therapeutic Area

  • Endocrine/metabolic Diseases (ME)

  • Genetic Disorder

Disease

  • Pyruvate kinase (PK) deficiency

Biomarkers

  • Pyruvate

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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