Tandem Mass Spectrometry Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: The Value of Second-Tier Enzyme Testing

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

Medicine, Pediatrics, Mass Spectrometric Analysis +14

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

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

Life Sciences, Genetics, Molecular Genetics +14

Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop

Ute Spiekerkoetter, Martin Lindner, René Santer et al. · Journal of Inherited Metabolic Disease · 2009 · 223 citations

Life Sciences, Biochemistry, Metabolism +11

Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop

Ute Spiekerkoetter, Martin Lindner, René Santer et al. · Journal of Inherited Metabolic Disease · 2009 · 177 citations · Full text

Life Sciences, Biochemistry, Clinical Nutrition +9