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Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four‐year report

8 Mar 2007

Abstract excerpt

We have initiated clinical selective screening for inborn errors of metabolism in China by analysing amino acids and acylcarnitines in a dried blood filter-paper samples using tandem mass spectrometry. Samples from a total of 3070 children suspected of inborn errors of metabolism were collected through a study network which covered most provinces of China. The diagnoses were further confirmed through clinical...

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PMID: 17347912
DOI: 10.1007/s10545-007-0543-9

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