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Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.

Jakub ZiegMartin BezdíčkaMichaela NěmčíkováMiroslava BalaščákováMartina SukováKatalin ŠtěrbováKarel VondrákJiří DušekAnna Křepelová
Published in: Italian journal of pediatrics (2023)
Although SIOD is a disease characterized by specific features, the individual phenotype may differ. Neurologic signs can severely affect the quality of life; the view on the management of SIOD is not uniform. Currently, new therapeutic methods are required.
Keyphrases
  • high resolution
  • mass spectrometry