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


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


The American Journal of Human Genetics




November 2000

Copyright © 2000, Elsevier

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