Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Orphanet journal of rare diseases

Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, …, Jerry Vockley, Holger Prokisch, Saskia Wortmann

• DOI: 10.1186/s13023-018-0784-8
• PMID: 30025539
• PMCID: PMC6053715