Blood spot homocysteine: a feasibility and stability study.

@article{Bowron2005BloodSH,
  title={Blood spot homocysteine: a feasibility and stability study.},
  author={A. Bowron and Anna Barton and Jeff Scott and D. Stansbie},
  journal={Clinical chemistry},
  year={2005},
  volume={51 1},
  pages={
          257-8
        }
}
Homocystinuria is an autosomal recessive disorder usually caused by deficiency of cystathionine β-synthase, leading to grossly increased plasma and urine concentrations of homocysteine. There is considerable evidence that early detection and treatment can prevent the clinical consequences of the enzyme deficiency (1)(2); therefore, screening for the disorder has been advocated (1). Many cases of homocystinuria have secondary hypermethioninemia. Neonatal screening for homocystinuria by… Expand
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