Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism-Reference-Cited by-同舟云学术

Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

Published:2000-11 Issue:5 Volume:67 Page:1095-1103
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Andresen Brage Storstein,Christensen Ernst,Corydon Thomas J.,Bross Peter,Pilgaard Bente,Wanders Ronald J.A.,Ruiter Jos P.N.,Simonsen Henrik,Winter Vibeke,Knudsen Inga,Schroeder Lisbeth Dahl,Gregersen Niels,Skovby Flemming

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference23 articles.

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2. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there a correlation between genotype and phenotype?;Andresen;Hum Mol Genet,1997

3. Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene;Andresen;Am J Hum Genet,1994

4. It is possible to correlate genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency;Andresen;Am J Hum Genet,1999

5. Identification of the catalytic residue of human short/branched chain acyl-CoA dehydrogenase by in vitro mutagenesis;Binzak;Biochim Biophys Acta,1998

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