Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.

Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.

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http://www.wikidata.org/entity/Q40402045
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature reviewFlavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencyEthylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat.Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.State of the art in muscle lipid diseases.Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.Human FAD synthase (isoform 2): a component of the machinery that delivers FAD to apo-flavoproteins
P2860

Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.

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http://www.wikidata.org/entity/Q40402045
description
2008 nî lūn-bûn
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2008年の論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Role of flavinylation in a mil ...... of riboflavin supplementation.
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Role of flavinylation in a mil ...... of riboflavin supplementation.
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Role of flavinylation in a mil ...... of riboflavin supplementation.
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P1476
P2093
P2860
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Role of flavinylation in a mil ...... of riboflavin supplementation
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921