A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

  • Regina Ensenauer
  • , Jerry Vockley
  • , Jan Marie Willard
  • , Joseph C. Huey
  • , Jörn Oliver Sass
  • , Steven D. Edland
  • , Barbara K. Burton
  • , Susan A. Berry
  • , René Santer
  • , Sarah Grünert
  • , Hans Georg Koch
  • , Iris Marquardt
  • , Piero Rinaldo
  • , Sihoun Hahn
  • , Dietrich Matern

Research output: Contribution to journal › Article › peer-review

149 Scopus citations

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Biochemistry, Genetics and Molecular Biology