Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

Deactivating Fatty Acids: Acyl-CoA Thioesterase-Mediated Control of Lipid Metabolism

(2017) Veronika Tillander et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases and a literature review in mainland Chinese patients

(2014) Min Zhu et al.   JOURNAL OF HUMAN GENETICS

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

(2014) Marco Biasini et al.   NUCLEIC ACIDS RESEARCH

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

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

New players on the metabolic stage

(2012) David E. Cohen   Adipocyte

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A

(2011) Zhi-Qiang Wang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

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

High resolution melting analysis facilitates mutation screening of ETFDH gene: Applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2010) Tze-Kiong Er et al.   CLINICA CHIMICA ACTA

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy

(2010) M-Y Lan et al.   CLINICAL GENETICS

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

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

Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy

(2010) Pornswan Wasant et al.   PEDIATRIC NEUROLOGY

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Lap-Kay Law et al.   CLINICA CHIMICA ACTA

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

(2009) B. Wen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Wen-Chen Liang et al.   NEUROMUSCULAR DISORDERS

Lipid storage myopathies

(2008) Claudio Bruno et al.   CURRENT OPINION IN NEUROLOGY

Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency

(2008) Bárbara J. Henriques et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2

(2008) Yuka Yotsumoto et al.   MOLECULAR GENETICS AND METABOLISM