Homocystinuria

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  Subject Areas on Research

  • Anesthetic considerations for the patient with homocystinuria. 
  • Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. 
  • Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. 
  • Vision of correction for classic homocystinuria.