ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
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Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatmentBent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature reviewDrug treatment of inborn errors of metabolism: a systematic reviewMitochondrial disorders: challenges in diagnosis & treatmentComputational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.Inborn errors of energy metabolism associated with myopathies.Mitochondrial reactive oxygen species (ROS) and ROS-induced ROS release.Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat.Cyclic vomiting syndrome masking a fatal metabolic disease.An immune response network associated with blood lipid levels.Ethylene glycol monomethyl ether-induced toxicity is mediated through the inhibition of flavoprotein dehydrogenase enzyme familyThe neuro-ophthalmology of mitochondrial diseaseClinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.State of the art in muscle lipid diseases.A modern approach to the treatment of mitochondrial disease176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyRedox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.Progress in understanding 2-hydroxyglutaric aciduriasRiboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy.Sodium oxybate intolerance associated with familial serum acylcarnitine elevationCyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.How can we treat mitochondrial encephalomyopathies? Approaches to therapyFrom cholesterogenesis to steroidogenesis: role of riboflavin and flavoenzymes in the biosynthesis of vitamin D.Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.Energy matters: mitochondrial proteomics for biomedicine.Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).Mitochondrial proteomics--a tool for the study of metabolic disorders.Genetics and metabolic cardiomyopathies.Treatment of hereditary optic neuropathies.Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.Riboflavin transport and metabolism in humans.An unusual case of severe high anion gap metabolic acidosisA polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress.Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.Metabolic modeling of muscle metabolism identifies key reactions linked to insulin resistance phenotypes.The investigation and management of metabolic myopathies.
P2860
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P2860
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@ast
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@en
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@nl
type
label
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@ast
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@en
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@nl
prefLabel
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@ast
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@en
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@nl
P2093
P50
P356
P1433
P1476
ETFDH mutations as a major cau ...... CoA dehydrogenation deficiency
@en
P2093
Anders Oldfors
Andrew A M Morris
Begoña Merinero
Douglass M Turnbull
Elisabeth Holme
Frank E Frerman
Michael W Beresford
Nanna Cornelius
Niels Gregersen
Oluf Andersen
P304
P356
10.1093/BRAIN/AWM135
P407
P577
2007-06-20T00:00:00Z