Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

M. Eleftheriadou, E. Medici-van den Herik, K. Stuurman, Y. van Bever, D.M.E.I. Hellebrekers, M. van Slegtenhorst, G. Ruijter, T.S. Barakat

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Web of Science)
Original languageEnglish
Article numbere1595
Number of pages10
JournalMolecular genetics & genomic medicine
Volume9
Issue number2
Early online date11 Jan 2021
DOIs
Publication statusPublished - Feb 2021

Keywords

  • acad8
  • autism
  • carnitine
  • children
  • disorders
  • encephalopathy
  • follow-up
  • genotype-phenotype correlation
  • identification
  • inborn-errors
  • isobutyryl-coa dehydrogenase deficiency
  • mutations
  • tandem mass-spectrometry
  • whole exome sequencing
  • CARNITINE
  • FOLLOW-UP
  • MUTATIONS
  • ACAD8
  • isobutyryl-CoA dehydrogenase deficiency
  • DISORDERS
  • TANDEM MASS-SPECTROMETRY
  • IDENTIFICATION
  • INBORN-ERRORS
  • CHILDREN
  • ENCEPHALOPATHY

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