The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

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

Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death

Donald H. Chace, James C. DiPerna, Brenda Mitchell et al. · Clinical Chemistry · 2001 · 247 citations

Medicine, Biochemistry, Human Nutrition +14

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

Veronica Wiley, Kevin Carpenter, Bridget Wilcken · Acta Paediatrica · 1999 · 131 citations

Medicine, Biochemistry, Pediatrics +17

Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

Morten J. Corydon, Jerry Vockley, Piero Rinaldo et al. · Pediatric Research · 2001 · 127 citations

Life Sciences, Genetics, Molecular Genetics +14

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria

Niels Gregersen · Human Molecular Genetics · 1998 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15