Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.

Matthias Eckenweiler, Johannes A. Mayr (Co-author), Sarah Grünert, Angela Abicht, Rudolf Korinthenberg

Research output: Contribution to journalOriginal Articlepeer-review

5 Citations (Web of Science)
Original languageEnglish
Pages (from-to)123-125
JournalNEUROPEDIATRICS
Volume52
Issue number2
DOIs
Publication statusPublished - 2021

Keywords

  • PYROPHOSPHOKINASE DEFICIENCY
  • DISEASE
  • IDENTIFICATION
  • EXPRESSION

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