Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology

(2019) Suphannee Chokchaiwong et al.   Cells

Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report

(2019) Manasawan Santananukarn et al.   AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION

Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report

(2019) Kenji Yamada et al.   BRAIN & DEVELOPMENT

Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency

(2019) Hai-zhu Chen et al.   CHINESE MEDICAL JOURNAL

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

(2019) Yılmaz Yıldız et al.   PEDIATRIC NEUROLOGY

Two novel ETFDH mutations in a patient with lipid storage myopathy

(2019) Hong-Liang Xu et al.   CHINESE MEDICAL JOURNAL

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

(2018) Liuh Ling Goh et al.   BMC Medical Genomics

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

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency

(2018) Francois H. van der Westhuizen et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases

(2018) Yoo Jinie Kim et al.   Annals of Laboratory Medicine

Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report

(2018) Daojun Hong et al.   BMC Neurology

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

(2018) Sara Missaglia et al.   Lipids in Health and Disease

Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH

(2018) Juan Wang et al.   MEDICINE

A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2017) Min Chen et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

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

Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI

(2017) Päivi Myllynen et al.   NEUROPEDIATRICS

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease—different clinical entities and comparable perinatal renal abnormalities

(2017) Agnes Hackl et al.   PEDIATRIC NEPHROLOGY

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

Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

(2016) Hong-xia Fu et al.   NEUROLOGICAL SCIENCES

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

(2016) Zhaoxia Wang et al.   NEUROMUSCULAR DISORDERS

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease

(2016) A. Béhin et al.   REVUE NEUROLOGIQUE

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review

(2015) Yufen Peng et al.   BMC Neurology

A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene

(2015) Zhihong Zhuo et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency

(2015) Charles H. Whitaker et al.   MUSCLE & NERVE

Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum

(2015) Bing Wen et al.   NEUROLOGICAL SCIENCES

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

Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene

(2014) Ayako Shioya et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

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

(2013) Jianying Xi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

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

Mitochondrial fatty acid oxidation defects—remaining challenges

(2008) Niels Gregersen et al.   JOURNAL OF INHERITED METABOLIC DISEASE