High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
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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.Delineating 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.Fatty Acid oxidation disorders in a chinese population in taiwan.Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.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.Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
P2860
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P2860
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on December 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
High frequency of ETFDH c.250G ...... -onset lipid storage myopathy.
@en
High frequency of ETFDH c.250G ...... -onset lipid storage myopathy.
@nl
type
label
High frequency of ETFDH c.250G ...... -onset lipid storage myopathy.
@en
High frequency of ETFDH c.250G ...... -onset lipid storage myopathy.
@nl
prefLabel
High frequency of ETFDH c.250G ...... -onset lipid storage myopathy.
@en
High frequency of ETFDH c.250G ...... -onset lipid storage myopathy.
@nl
P2093
P1433
P1476
High frequency of ETFDH c.250G ...... -onset lipid storage myopathy.
@en
P2093
P304
P356
10.1111/J.1399-0004.2010.01421.X
P577
2010-12-01T00:00:00Z