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Newborn Screening for Hepatorenal Tyrosinemia: Tandem Mass Spectrometric Quantification of Succinylacetone

Johannes Sander, Nils Janzen, Michael Peter, Stefanie Sander, Ulrike Steuerwald, Ute Holtkamp, Bernd Schwahn, Ertan Mayatepek, Friedrich K. Trefz, Anibh M. Das

Clinical Chemistry · 2006 · 61 citations · 13 references

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Abstract

Tandem mass spectrometric quantification directly from residual blood spots is a useful method for the early detection of hepatorenal tyrosinemia in newborn-screening programs.

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Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots

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