Concepedia

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

James D. Weisfeld‐Adams, Mark A. Morrissey, Brian Kirmse, Bobbie R. Salveson, Melissa Wasserstein, Peter J. McGuire, Sherlykutty Sunny, Jessica Cohen‐Pfeffer, Chunli Yu, Michele Caggana,

Molecular Genetics and Metabolism · 2009 · 132 citations · 22 references

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Concepts

References

22

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Bridget Wilcken, Veronica Wiley, Judith Hammond et al. · New England Journal of Medicine · 2003 · 683 citations

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Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

Thomas H. Zytkovicz, Eileen F Fitzgerald, Deborah Marsden et al. · Clinical Chemistry · 2001 · 496 citations · Full text

, , +13

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Jordan Lerner‐Ellis, Jamie C. Tirone, Peter D. Pawelek et al. · Nature Genetics · 2005 · 376 citations

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Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)

Dietrich Matern, Silvia Tortorelli, Devin Oglesbee et al. · Journal of Inherited Metabolic Disease · 2007 · 222 citations · Full text

, , +12

Spectrum of mutations in<i>MMACHC</i>, allelic expression, and evidence for genotypeâphenotype correlations

Jordan Lerner‐Ellis, Natascia Anastasio, Junhui Liu et al. · Human Mutation · 2009 · 214 citations

, , +17