Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E.; Bassett, John K.; Cartwright, Eleanor; Bhaskar, Sanjeev; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew A.M.; Jameson, Elisabeth; Schwahn, Bernd C.; Walter, John H.; Douzgou, Sofia; Murphy, Helen; Hendriksz, Christian J.; Sharma, Reena; Wilcox, Gisela; Crushell, Ellen; Monavari, Ardeshir A.; Martin, Richard; Doolan, Anne; Senniappan, Senthil; Ramsden, Simon C.; Jones, Simon A.; Banka, Siddharth
(BMJ Publishing Group, 2017-11)
BACKGROUND : Inborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches. METHODS : We designed and ...
