Functional Correction of Short-Chain Acyl-CoA Dehydrogenase Deficiency in Transgenic Mice: Implications for Gene Therapy of Human Mitochondrial Enzyme Deficiencies

By Kelly C. Lisa   Rhead William J.   Kutschke William K.   Brix Amy E.   Hamm Doug A.   Pinkert Carl A.   Lindsey J. Russell   Wood Philip A.  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1451-1455

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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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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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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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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