A Case of Late‐onset Riboflavin Responsive Multiple acyl‐CoA Dehydrogenase Deficiency with Novel Mutations in ETFDH Gene

Antzeko izenburuak

• Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations
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• Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
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• A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency
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• Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
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  Argitaratua: (2018-11-01)
• Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
  nork: Missaglia, Sara, et al.
  Argitaratua: (2018)