FLAD1 ‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?

(2018) Piero Leone et al.   MOLECULES

Post-Mortem Detection of FLAD1 Mutations in 2 Turkish Siblings with Hypotonia in Early Infancy

(2018) Yılmaz Yıldız et al.   NEUROMUSCULAR DISORDERS

FLAD1 , encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

(2018) Judit García-Villoria et al.   CLINICAL GENETICS

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

(2017) M. Auranen et al.   NEUROMUSCULAR DISORDERS

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

(2016) Rikke K.J. Olsen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

(2016) Manuel Schiff et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel homozygous mutation inKPTNgene causing a familial intellectual disability-macrocephaly syndrome

(2015) Sander Pajusalu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

(2011) Tânia G. Lucas et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE