Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia

Indian Pediatr. 2018 Jun 15;55(6):529-530.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Fatal Outcome
  • Genetic Markers
  • Heterozygote*
  • Humans
  • Infant, Newborn
  • Male
  • Methylmalonyl-CoA Decarboxylase / genetics*
  • Mutation*
  • Propionic Acidemia / diagnosis
  • Propionic Acidemia / genetics*

Substances

  • Genetic Markers
  • Methylmalonyl-CoA Decarboxylase