Latest Advances

  • Condition: Holocarboxylase Synthetase Deficiency (late-onset)
  • Journal: Medicine
  • Treatment Used: Biotin
  • Number of Patients: 2
  • Published —
The study researched the outcomes of 2 patients with holocarboxylase synthetase deficiency (late-onset).
  • Condition: Newborns with an inborn metabolic disease
  • Journal: Turkish journal of medical sciences
  • Treatment Used: Continuous venovenous hemodiafiltration
  • Number of Patients: 8
  • Published —
The study researched the effects of continuous venovenous hemodiafiltration (machine that acts as a filter for the blood) for newborns with an inborn metabolic disease.
  • Condition: Inborn Errors of Metabolism
  • Journal: European journal of pediatrics
  • Treatment Used: Continuous Venovenous Hemodiafiltration Versus Peritoneal Dialysis
  • Number of Patients: 40
  • Published —
In this study, researchers compared the effectiveness of continuous venovenous hemodiafiltration versus peritoneal dialysis for the treatment of newborns with inborn errors of metabolism.
  • Condition: Neonatal-Onset Inborn Errors of Metabolism
  • Journal: Nephrology (Carlton, Vic.)
  • Treatment Used: Renal Replacement Therapy (RRT)
  • Number of Patients: 12
  • Published —
This study reported 10-year experience using emergency . renal replacement therapy (RRT) in newborns with severe urea cycle defects (UCD), organic acidemias (OA) and maple syrup urine disease (MSUD).
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