Disease: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
- A Young Female With Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case Report
- Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency
- Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
- Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
- Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency
- Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation
- Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase
- Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) precipitating unexpected death in an infant: Report of a case and a brief review of literature
- Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment
- Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
- Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients
- Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study
- Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency
- Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations
- Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province
- Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots