ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
about
Metabolic features of chronic fatigue syndromeComputational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells.Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat.Clinical presentations of coenzyme q10 deficiency syndromeThe 3-methylglutaconic acidurias: what's new?Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.State of the art in muscle lipid diseases.Identification and characterization of the minimal 5'-regulatory region of the human riboflavin transporter-3 (SLC52A3) in intestinal epithelial cells.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyGlutaric aciduria type 2 presenting with acute respiratory failure in an adultCoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Progress in understanding 2-hydroxyglutaric aciduriasCoenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.Mechanism and regulation of vitamin B2 (riboflavin) uptake by mouse and human pancreatic β-cells/islets: physiological and molecular aspectsFatty Acid oxidation disorders in a chinese population in taiwan.Chronic alcohol feeding inhibits physiological and molecular parameters of intestinal and renal riboflavin transportNovel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.Coenzyme Q and mitochondrial diseasePrimary and secondary CoQ(10) deficiencies in humans.Metabolic Myoglobinuria.Identification and characterization of 5'-flanking region of the human riboflavin transporter 1 gene (SLC52A1).Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.The investigation and management of metabolic myopathies.Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts.Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency
P2860
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P2860
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
description
2009 nî lūn-bûn
@nan
2009 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մարտին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@ast
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@en
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@nl
type
label
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@ast
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@en
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@nl
prefLabel
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@ast
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@en
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@nl
P2093
P1476
ETFDH mutations, CoQ10 levels, ...... l-CoA dehydrogenase deficiency
@en
P2093
Aya Ohkuma
Ikuya Nonaka
Liang-Hui Chen
Michio Hirano
Satoru Noguchi
Wen-Chen Liang
Yuh-Jyh Jong
Yukiko K Hayashi
P356
10.1016/J.NMD.2009.01.008
P407
P577
2009-03-01T00:00:00Z