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Rare diseases / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Newborn screening / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Fatty-acid metabolism disorder / Acyl CoA dehydrogenase / Phenylketonuria / Mitochondrial trifunctional protein / Inborn error of lipid metabolism / Health / Genetic genealogy / Medical genetics
Date: 2012-05-31 13:41:14
Rare diseases
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Newborn screening
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Fatty-acid metabolism disorder
Acyl CoA dehydrogenase
Phenylketonuria
Mitochondrial trifunctional protein
Inborn error of lipid metabolism
Health
Genetic genealogy
Medical genetics

MS/MS-BASED NEWBORN AND FAMILY SCREENING DETECTS ASYMPTOMATIC PATIENTS WITH VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY UTE SPIEKERKOETTER, MD, BIN SUN, MD, THOMAS ZYTKOVICZ, PHD, RONALD WANDERS, PHD, ARNOLD W. STR

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