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

Open Access
Authors
  • B.S. Andresen
  • E. Christensen
  • Th.J. Corydon
  • P. Bross
  • B. Pilgaard
  • R.J.A. Wanders
  • J.P.N. Ruiter
  • H. Simonsen
  • V. Winter
  • I. Knudsen
  • L.D. Schroeder
  • N. Gregersen
  • F. Skovby
Publication date 2000
Journal American Journal of Human Genetics
Volume | Issue number 67
Pages (from-to) 1095-1103
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type Article
Note DK. ©1997 The University of Chicago Press
Published at https://doi.org/10.1086/303105
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