Concepedia

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Loren Peña, Sandra C. Van Calcar, Joyanna Hansen, Mathew J. Edick, Cate Walsh Vockley, Nancy Leslie, Cynthia A. Cameron, Al‐Walid Mohsen, Susan A. Berry, Georgianne L. Arnold,

Molecular Genetics and Metabolism · 2016 · 90 citations · 28 references

DOI

Concepts

References

28

Executive Summary

Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear et al. · Genetics in Medicine · 2006 · 487 citations · Full text

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, S. E. Olpin, Ben J. H. M. Poorthuis et al. · The American Journal of Human Genetics · 1999 · 302 citations · Full text

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The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

Harold F. Sims, J C Brackett, C K Powell et al. · Proceedings of the National Academy of Sciences · 1995 · 225 citations

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High prevalence of muscular ventricular septal defect in neonates

Nathan Roguin, Zhong‐Dong Du, Mila Barak et al. · Journal of the American College of Cardiology · 1995 · 224 citations

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