Concepedia

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

Mark J Magera, Nishantha D. Gunawardena, Si Houn Hahn, Silvia Tortorelli, Grant A. Mitchell, Stephen I. Goodman, Piero Rinaldo, Dietrich Matern

Molecular Genetics and Metabolism · 2006 · 67 citations · 7 references

DOI

Concepts

References

7

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Jean M. Lacey, Carla Minutti, Mark J Magera et al. · Clinical Chemistry · 2004 · 215 citations · Full text

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

Pierre Allard, A Grenier, Mark Korson et al. · Clinical Biochemistry · 2004 · 99 citations

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Spectrophotometric Microassay for δ-Aminolevulinate Dehydratase in Dried-Blood Spots as Confirmation for Hereditary Tyrosinemia Type I

Andreas Schulze, David Frommhold, Georg F. Hoffmann et al. · Clinical Chemistry · 2001 · 37 citations · Full text

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Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia

Mohamed S. Rashed, Lujane Y. Al-Ahaidib, Osama Y. Al-Dirbashi et al. · Analytical Biochemistry · 2005 · 27 citations

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