Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature

Bushra Afroze, Saadet Mercimek-Andrews

Research output: Contribution to journalLetterpeer-review

7 Citations (Scopus)
Original languageEnglish
Pages (from-to)280-282
Number of pages3
JournalCanadian Journal of Neurological Sciences
Volume47
Issue number2
DOIs
Publication statusPublished - 1 Mar 2020

Keywords

  • Global developmental delay
  • Hypomyelination
  • Microcephaly
  • PYCR2
  • Pyrroline-5-carboxylate reductase 2 deficiency
  • Seizures

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