Associated Papers
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
Exploring Aerobic Energy Metabolism in Breast Cancer: A Mutational Profile of Glycolysis and Oxidative Phosphorylation.
Oliveira RC et al.
International Journal of Molecular Sciences, 2024
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Yamada K et al.
Brain & Development, 2017
A novel ETFB mutation in a patient with glutaric aciduria type II.
Sudo Y et al.
Human Genome Variation, 2015
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Grünert SC
Orphanet Journal of Rare Diseases, 2014
25200064 (PubMed )
Supplement: s13023-014-0117-5-S1.doc
In silico prediction of deleterious single amino acid polymorphisms from amino acid sequence.
Li S et al.
Journal of Computational Chemistry, 2011
21425278 (PubMed )
Supplement: supplement_1.pdf
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y et al.
Molecular Genetics and Metabolism, 2008
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen RK et al.
Human Mutation, 2003
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