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UK strives for neonatal screening cutting-edge with trial of five tests

This article was originally published in Clinica

Executive Summary

The UK is considering extending the “heel-prick” neonatal screening programme to include tests for a further five rare inherited conditions. These are: maple syrup urine disease, homocystinuria, glutaric acidaemia type 1, isovaleric acidaemia and long chain fatty acidaemia, each of which affects around 1 in 100,000 births.





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