Associated Papers
Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.
Gong Z et al.
Frontiers in Genetics, 2021
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima G et al.
Molecular Genetics and Metabolism, 2016
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K et al.
Molecular Genetics and Metabolism, 2016
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
Jinjun C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Smith EH et al.
Molecular Genetics and Metabolism, 2010
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