Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency

Can J Neurol Sci. 2013 Jan;40(1):109-12. doi: 10.1017/s0317167100013081.
No abstract available

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Child
  • Chromosomes, Human, Pair 12 / genetics
  • Consanguinity
  • DNA Mutational Analysis
  • Family Health*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Pregnancy
  • Sudan
  • Sulfite Oxidase / deficiency
  • Sulfite Oxidase / genetics*
  • Tomography, X-Ray Computed

Substances

  • Sulfite Oxidase

Supplementary concepts

  • Sulfite oxidase deficiency