Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy

(2018) Wei Zhang et al.   CHINESE MEDICAL JOURNAL

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

(2017) Ying Xue et al.   Lipids in Health and Disease

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

(2017) Signe Mosegaard et al.   MOLECULAR GENETICS AND METABOLISM

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

Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases

(2016) Kenji Yamada et al.   BRAIN & DEVELOPMENT

Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency

(2016) Zhaoxia Wang et al.   NEUROMUSCULAR DISORDERS

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

(2014) Sara Missaglia et al.   BMC Medical Genetics

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

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

Comparison of three different kits for extraction of high-quality RNA from frozen blood

(2014) Jin-Hee Kim et al.   SpringerPlus

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

(2012) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif

(2011) Tze-Kiong Er et al.   BMC STRUCTURAL BIOLOGY

Emerging Roles for Riboflavin in Functional Rescue of Mitochondrial β-Oxidation Flavoenzymes

(2010) Barbara J. Henriques et al.   CURRENT MEDICINAL CHEMISTRY

Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency

(2009) Laura M. Pollard et al.   JOURNAL OF CHILD NEUROLOGY

Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II

(2007) Brad Angle et al.   MOLECULAR GENETICS AND METABOLISM