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

Arch Dis Child. 2017 May 3. pii: archdischild-2017-312738.D OI:10.1136/archdischild-2017-312738. [Epub ahead of print]

Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AA, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S.

https://www.ncbi.nlm.nih.gov/pubmed/28468868

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