Associated Papers
PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.
Lin DF et al.
Bmc Medical Genomics, 2025
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.
Ma J et al.
Orphanet Journal of Rare Diseases, 2024
38365830 (PubMed )
Supplement: 13023_2024_3072_MOESM6_ESM.docx
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 2022
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
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
Yamada K et al.
Brain & Development, 2016
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
Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
Trakadis Y et al.
Molecular Genetics and Metabolism, 2012
Clinical and genetic analysis of lipid storage myopathies.
Ohkuma A et al.
Muscle & Nerve, 2009
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