Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest

Pediatr Blood Cancer. 2013 Jul;60(7):1242-3. doi: 10.1002/pbc.24529. Epub 2013 Mar 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anemia, Megaloblastic / genetics*
  • Base Sequence
  • Child, Preschool
  • Diabetes Mellitus / genetics*
  • Female
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Ketoglutarate Dehydrogenase Complex / deficiency
  • Ketoglutarate Dehydrogenase Complex / genetics
  • Membrane Transport Proteins / genetics*
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Thiamine Deficiency / congenital

Substances

  • Membrane Transport Proteins
  • SLC19A2 protein, human
  • Ketoglutarate Dehydrogenase Complex

Supplementary concepts

  • Thiamine responsive megaloblastic anemia syndrome