The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

By Pedersen Christina  

Human Genetics, Vol. 124, Iss. 1, 2008-08 ,pp. : 43-56

Springer Publishing Company

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Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse

By Rhead W.J.  

Human Molecular Genetics, Vol. 10, Iss. 19, 2001-09 ,pp. : 2069-2077

Oxford University Press

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The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

By Andresen Brage Storstein  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 695-707

Oxford University Press

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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase ( SCAD ) gene in two patients: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria

By Bhala A.  

Human Molecular Genetics, Vol. 7, Iss. 4, 1998-04 ,pp. : 619-627

Oxford University Press

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Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders

By Djouadi F.  

Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2695-2703

Oxford University Press

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