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Clinical Chemistry|February 19, 2008
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spotsColeman Turgeon, Mark J Magera, Pierre Allard, et al.
Journal of Inherited Metabolic Disease|February 25, 2016
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidationColin S McCoin, Brian D Piccolo, Trina A Knotts, et al.
Human Molecular Genetics|September 22, 2007
Succinate inhibition of alpha-ketoglutarate-dependent enzymes in a yeast model of paragangliomaEmily H Smith, Ralf Janknecht, L James Maher
Molecular Genetics and Metabolism|October 28, 2011
Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidationAnnie M Behrend, Cary O Harding, James D Shoemaker, et al.
International Journal of Neonatal Screening|October 19, 2020
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin MetabolismDimitar K Gavrilov, Amy L Piazza, Gisele Pino, et al.
International Journal of Neonatal Screening|February 23, 2024
Newborn Screening for Krabbe Disease: Status Quo and Recommendations for ImprovementsDietrich Matern, Khaja Basheeruddin, Tracy L Klug, et al.
Molecular Genetics and Metabolism|February 9, 2010
Homogentisic acid interference in routine urine creatinine determinationPerry R Loken, Mark J Magera, Wendy Introne, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 22, 2003
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiencySarah P Young, Dietrich Matern, Niels Gregersen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2005
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notificationRegina Ensenauer, Jennifer L Winters, Patricia A Parton, et al.
Human Gene Therapy|May 27, 2008
Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCADStuart G Beattie, Eric Goetzman, Thomas Conlon, et al.
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