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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, Joseph Muenzer, Shawn E. McCandless, Dianne M. Frazier, Szabolcs Udvari, Peter Bross, Inga Knudsen, Rick Banas,

The American Journal of Human Genetics · 2001 · 233 citations · 28 references

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28

The metabolic and molecular bases of inherited disease

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

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A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women

Jamal A. Ibdah, Michael J. Bennett, Piero Rinaldo et al. · New England Journal of Medicine · 1999 · 500 citations · Full text

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Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

Donald H. Chace, Steven L Hillman, Johan L.K. Van Hove et al. · Clinical Chemistry · 1997 · 284 citations · Full text

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Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

A. Kimberly Iafolla, Robert J. Thompson, Charles R. Roe · The Journal of Pediatrics · 1994 · 277 citations

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Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.

J J Kim, Mei Wang, Rosemary Paschke · Proceedings of the National Academy of Sciences · 1993 · 244 citations

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