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Genetics & Genomics

Children's Hospital publishes research in genetics & genomics

Published in Hospital Law Weekly, May 31st, 2007

Researchers detail in "Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening," new data in genetics & genomics. According to recent research published in the journal Molecular Genetics and Metabolism, "Diagnosis of Non-Ketotic Hyperglycinemia by MSMS newborn screening might benefit patients with post-neonatal presentation. We screened 733,527 babies over eight years, and nine babies were subsequently diagnosed with NKHG."

"Two had newborn glycine levels above our cut-off and presented within 72 h. The remaining patients could not have been diagnosed by newborn screening without an unacceptably high recall rate," wrote...

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