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Last Updated: 10/31/2025
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Found 128 publications
Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.
Journal: Molecular genetics and metabolism
Published: May 14, 2025
Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 08, 2024
Assessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.
Journal: Acta paediatrica (Oslo, Norway : 1992)
Published: June 19, 2024
iPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Journal: Journal of inherited metabolic disease
Published: March 06, 2024
Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings.
Journal: Indian journal of pediatrics
Published: October 24, 2023
Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: October 20, 2023
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.
Journal: Orphanet journal of rare diseases
Published: September 20, 2023
Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease
Published: September 06, 2023
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Journal: Forensic science international. Genetics
Published: July 20, 2023
Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 27, 2023
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Journal: BMC pediatrics
Published: May 19, 2023
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Journal: Molecular genetics and metabolism
Published: April 26, 2023
Last Updated: 10/31/2025