Associated Papers
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E et al.
Endocrinology, Diabetes & Metabolism, 2023
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P et al.
European Journal of Pediatrics, 2019
Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.
Bouvier D et al.
Jimd Reports, 2017
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.
Touw CM et al.
Orphanet Journal of Rare Diseases, 2013
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
Waisbren SE et al.
Developmental Disabilities Research Reviews, 2013
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.
Wanders RJ et al.
Journal of Inherited Metabolic Disease, 2010
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Lang TF
Journal of Inherited Metabolic Disease, 2009
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
ter Veld F et al.
Plos One, 2009
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
Holtzman NA
The Journal of Pediatrics, 2004
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
Waisbren SE et al.
Jama, 2003
Disorders of mitochondrial fatty acyl-CoA beta-oxidation.
Wanders RJ et al.
Journal of Inherited Metabolic Disease, 1999
Detection and assessment by positron emission tomography of a genetically determined defect in myocardial fatty acid utilization (long-chain acyl-CoA dehydrogenase deficiency).
Kelly DP et al.
The American Journal of Cardiology, 1993
Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
Coates PM et al.
Pediatric Research, 1992
Medium-chain acyl-CoA dehydrogenase deficiency.
Stanley CA et al.
Progress in Clinical and Biological Research, 1990
Medium-chain acyl-CoA dehydrogenase deficiency.
Egidio RJ et al.
American Family Physician, 1989
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