Short-Chain Acyl-CoA Dehydrogenase Deficiency Latest Advances
Find the Latest Research About Short-Chain Acyl-CoA Dehydrogenase Deficiency
Last Updated: 09/19/2026
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Found 115 publications
Screening and genetic variation analysis of fatty acid oxidation disorder in neonates in Qingdao City
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: August 17, 2026
Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 01, 2026
Structure and Substrate Specificity of Human Short-Chain Acyl-CoA Dehydrogenase and Insights into Pathogenicity of Disease-Associated Mutations.
Journal: International journal of molecular sciences
Published: January 31, 2026
Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.
Journal: Clinical biochemistry
Published: December 17, 2025
Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 29, 2023
Riboflavin ameliorates pathological cardiac hypertrophy and fibrosis through the activation of short-chain acyl-CoA dehydrogenase.
Journal: European journal of pharmacology
Published: December 18, 2022
Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: October 08, 2022
Quantitation of Butyrylcarnitine, Isobutyrylcarnitine, and Glutarylcarnitine in Urine Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Journal: Methods in molecular biology (Clifton, N.J.)
Published: September 20, 2022
Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Journal: Molecular genetics and metabolism
Published: August 08, 2022
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
Journal: Journal of inherited metabolic disease
Published: November 11, 2020
Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.
Journal: Brain & development
Published: October 17, 2020
Last Updated: 09/19/2026