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
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.
Touw CM et al.
Orphanet Journal of Rare Diseases, 2013
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
Oerton J et al.
Journal of Medical Screening, 2011
Expanded newborn screening in Greece: 30 months of experience.
Loukas YL 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
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