A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency

The Ensembl Variant Effect Predictor

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The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Disease Mechanism, Genetic Disorder, Genetics +6

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

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Metabolic Disorder, Genetics, Molecular Biology +25

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Sarah C. Grünert · Orphanet Journal of Rare Diseases · 2014 · 203 citations · Full text