A novel mutation in PCCB gene causing neonatal onset propionic acidaemia in a Sri Lankan patient

Niranjalee Samanthika Egodawaththe, Sandya Bandara, Eresha Jasinge, Patricia Jones

Research output: Contribution to journalArticlepeer-review

Original languageEnglish (US)
Pages (from-to)153-155
Number of pages3
JournalSri Lanka Journal of Child Health
Volume50
Issue number1
DOIs
StatePublished - 2021

Keywords

  • Propionic acidaemia
  • hyperammonaemia
  • ketotic hyperglycinaemia
  • neonatal encephalopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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