Medium Chain Acyl Coa Dehydrogenase Deficiency (mcadd) - Neonatal Disorders

Relevant Publications

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Issue Release: 2024

Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency.

Issue Release: 2024

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.

Issue Release: 2024

Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: genotype-phenotype correlation.

Issue Release: 2023

[Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].

Issue Release: 2023

Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.

Issue Release: 2023

A Young Female With Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case Report.

Issue Release: 2023

Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.

Issue Release: 2023

Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots.

Issue Release: 2023

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

Issue Release: 2022

Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province.

Issue Release: 2022

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Issue Release: 2022

Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.

Issue Release: 2022

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Issue Release: 2022

Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study.

Issue Release: 2022

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) precipitating unexpected death in an infant: Report of a case and a brief review of literature.

Issue Release: 2022

Status epilepticus and coma leading to death in a boy caused by Medium-chainacyl-coA dehydrogenase deficiency.

Issue Release: 2021

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.

Issue Release: 2021

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.

Issue Release: 2021

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Issue Release: 2021

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