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

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

(2013) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation

(2013) Bing Wen et al.   MOLECULAR GENETICS AND METABOLISM

Genetic and cellular modifiers of oxidative stress: What can we learn from fatty acid oxidation defects?

(2013) Rikke Katrine Jentoft Olsen et al.   MOLECULAR GENETICS AND METABOLISM

A Case of Late-onset Riboflavin Responsive Multiple acyl-CoA Dehydrogenase Deficiency with Novel Mutations in ETFDH Gene

(2012) Zhang-Ning Zhao et al.   CNS Neuroscience & Therapeutics

A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure

(2011) Rumiko Izumi et al.   INTERNAL MEDICINE

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

Multiple Acyl-CoA-dehydrogenase deficiency (MADD) — A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH

(2011) A.B. Lämmer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The effects of glucocorticoids on adipose tissue lipid metabolism

(2011) Ashley J. Peckett et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Subacute myopathy in a mature patient due to multiple acyl-coenzyme a dehydrogenase deficiency

(2011) Pierre Kaminsky et al.   MUSCLE & NERVE

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

(2011) Maria Sofia Cotelli et al.   NEUROLOGICAL SCIENCES

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

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