Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

ENGINES: exploring single nucleotide variation in entire human genomes

(2011) Jorge Amigo et al.   BMC BIOINFORMATICS

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

The electron transfer flavoprotein: Ubiquinone oxidoreductases

(2010) Nicholas J. Watmough et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

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

Clinical and genetic analysis of lipid storage myopathies

(2009) Aya Ohkuma et al.   MUSCLE & NERVE

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

Metabolic myopathies: a guide and update for clinicians

(2008) Marian L Burr et al.   CURRENT OPINION IN RHEUMATOLOGY

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