Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy
about
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.Inborn errors of energy metabolism associated with myopathies.Stable isotope dilution liquid chromatography/mass spectrometry analysis of cellular and tissue medium- and long-chain acyl-coenzyme A thioestersCarnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyDelineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.Mitochondria as chi.Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiencyPharmacological approaches to restore mitochondrial function.Pathogenesis and treatment of mitochondrial myopathies: recent advances.Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.Flux analysis of inborn errors of metabolism.
P2860
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P2860
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy
description
2007 nî lūn-bûn
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
@zh-hk
2007年論文
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2007年論文
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name
Genetic basis for correction o ...... oward a genotype-based therapy
@ast
Genetic basis for correction o ...... oward a genotype-based therapy
@en
type
label
Genetic basis for correction o ...... oward a genotype-based therapy
@ast
Genetic basis for correction o ...... oward a genotype-based therapy
@en
prefLabel
Genetic basis for correction o ...... oward a genotype-based therapy
@ast
Genetic basis for correction o ...... oward a genotype-based therapy
@en
P2093
P2860
P50
P356
P1476
Genetic basis for correction o ...... oward a genotype-based therapy
@en
P2093
J P N Ruiter
R J A Wanders
R McAndrew
S Gobin-Limballe
S Yamaguchi
P2860
P304
P356
10.1086/522375
P407
P577
2007-10-29T00:00:00Z