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A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

  • Roel J. P. Smeets
  • , Jan A. M. Smeitink
  • , Ben A. Semmekrot
  • , Hans R. Scholte
  • , Ronald J. A. Wanders
  • , Lambert P. W. J. van den Heuvel

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Biochemistry, Genetics and Molecular Biology

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