Associated Papers
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
Lee YJ et al.
Neuromuscular Disorders : Nmd, 2021
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Muru K et al.
Molecular Genetics & Genomic Medicine, 2019
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Yamada K et al.
Brain & Development, 2019
Disorders of riboflavin metabolism.
Balasubramaniam S et al.
Journal of Inherited Metabolic Disease, 2019
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.
Ryder B et al.
Jimd Reports, 2019
Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
Tolomeo M et al.
Free Radical Research, 0
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