Associated Papers
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.
Seyedtaghia MR et al.
Molecular Genetics & Genomic Medicine, 2024
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
Ou M et al.
Bmc Medical Genetics, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Yıldız Y et al.
Pediatric Neurology, 2019
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.
Fischer T et al.
Nutrition (burbank, Los Angeles County, Calif.), 2019
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
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