A useful method to diagnose Pearson syndrome mimicking Diamond-Blackfan anemia

Pediatr Int. 2021 Feb;63(2):223-225. doi: 10.1111/ped.14385. Epub 2021 Feb 15.
No abstract available

Keywords: Diamond-Blackfan anemia; Pearson syndrome; extracellular flux analyzer; mitochondrial oxidative phosphorylation.

MeSH terms

  • Anemia, Diamond-Blackfan* / diagnosis
  • Anemia, Diamond-Blackfan* / genetics
  • Congenital Bone Marrow Failure Syndromes
  • Humans
  • Lipid Metabolism, Inborn Errors*
  • Mitochondrial Diseases*
  • Muscular Diseases

Supplementary concepts

  • VLCAD deficiency