MCAD deficiency
Definition:
References:
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[1]. B S Andresen, et al. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?. Hum Mol Genet. 1997 May;6(5):695-707. [Content Brief]
[2]. J Leal, et al. Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. Clin Genet. 2014 Mar;85(3):253-9. [Content Brief]
[3]. P J Lee, et al. L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. J Inherit Metab Dis. 2005;28(2):141-52. [Content Brief]
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