Newborn Screening for MCAD Deficiency

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

Life Sciences, Biochemistry, Clinical Biochemistry +13

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

Life Sciences, Biochemistry, Clinical Biochemistry +14

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

Life Sciences, Biochemistry, Pediatrics +13

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

Life Sciences, Genetics, Molecular Genetics +17

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

J L Van Hove, Wei Zhang, Stephen G. Kahler et al. · PubMed · 1993 · 175 citations

Life Sciences, Biochemistry, Molecular Biology +10