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

Arunabha Ghosh,Helene Schlecht,Lesley Heptinstall,John K. Bassett,Eleanor Cartwright,Sanjeev S. Bhaskar,Jill Urquhart,Alexander Broomfield,Andrew A. M. Morris,Elisabeth Jameson,Bernd Schwahn,J. H. Walter,Sofia Douzgou,Helen Murphy,Christian J. Hendriksz,Reena Sharma,Gisela Wilcox,Ellen Crushell,A. A. Monavari,Richard Martin,Anne Doolan,Senthil Senniappan,Simon C. Ramsden,Simon A. Jones,Siddharth Banka

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

2017

The Manchester Biomedical Research Centre, the British Inherited Metabolic Disease Group 2015 Studentship scheme and the Central Manchester NHS Foundation Trust Newly Appointed Consultants Leadership Programme 2014.

Keywords:

DNA sequencing
Intensive care medicine
Medicine
Disease
research centre
inherited metabolic disease

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