A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

Turk J Haematol. 2017 Dec 1;34(4):376-377. doi: 10.4274/tjh.2017.0231. Epub 2017 Aug 23.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acidosis, Lactic / genetics*
  • Acidosis, Lactic / therapy
  • Anemia, Sideroblastic / genetics*
  • Anemia, Sideroblastic / therapy
  • Humans
  • Hydro-Lyases / genetics*
  • Infant
  • Male
  • Muscular Diseases / genetics*
  • Muscular Diseases / therapy
  • Mutation*

Substances

  • Hydro-Lyases
  • pseudouridylate synthetase