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Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.

Loredana ArhipNoemi Brox-TorrecillaInmaculada RomeroMarta MotillaClara Serrano-MorenoMaría MiguélezCristina Cuerda
Published in: Orphanet journal of rare diseases (2024)
Most scientific literature regarding the late onset cblC disease comes from case reports and case series. In most cases treatment initiation led to an improvement and even recovery of some patients. The lack of complete recovery underlines the necessity for increased vigilance in unclear clinical symptoms for cblC disease.
Keyphrases
  • late onset
  • systematic review
  • early onset
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • newly diagnosed
  • meta analyses
  • case report
  • physical activity
  • patient reported outcomes
  • combination therapy