Concepedia

Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

Georgianne L. Arnold, Carlos A. Saavedra‐Matiz, Patricia Galvin‐Parton, Richard W. Erbe, Ellen DeVincentis, David Kronn, Shideh Mofidi, Melissa Wasserstein, Joan E. Pellegrino, Paul A. Levy,

Molecular Genetics and Metabolism · 2009 · 54 citations · 8 references

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References

8

The metabolic and molecular bases of inherited disease

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

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Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly et al. · The American Journal of Human Genetics · 2001 · 233 citations · Full text

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Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

Bridget Wilcken, Marion Haas, Pamela Joy et al. · The Lancet · 2007 · 184 citations

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Medium-chain acyl-CoA dehydrogenase deficiency: Genotype–biochemical phenotype correlations

Leigh B. Waddell, Veronica Wiley, Kevin Carpenter et al. · Molecular Genetics and Metabolism · 2005 · 92 citations

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