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Last Updated: 10/31/2025
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Found 111 publications
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
Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease.
Journal: IUBMB life
Published: April 21, 2020
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
Journal: The Turkish journal of pediatrics
Published: April 08, 2020
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Journal: Journal of clinical medicine
Published: January 31, 2020
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Journal: Molecular genetics and metabolism
Published: November 25, 2019
Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 09, 2019
Last Updated: 10/31/2025