First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia

  • Erika Ogawa
  • , Chika Takano
  • , Natsuko Arai-Ichinoi
  • , Takashi Hamazaki
  • , Hideo Sasai
  • , Ichiro Morioka
  • , Mika Ishige

Research output: Contribution to journalComment/debate

Original languageEnglish
Article numbere70240
JournalPediatrics International
Volume67
Issue number1
DOIs
Publication statusPublished - 1 Jan 2025

Keywords

  • DNAJC12
  • co-chaperone
  • hyperphenylalaninemia
  • neurotransmitter
  • newborn screening

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