Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

@article{Zaki2016MolybdenumCA,
  title={Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.},
  author={Maha S Zaki and Laila A Selim and Hala T El-Bassyouni and Mahmoud Y Issa and Iman G Mahmoud and Samira I. Ismail and Mariane Girgis and Abdelrahim Abdrabou Sadek and Joseph G Gleeson and Mohamed S Abdel Hamid},
  journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  year={2016},
  volume={20 5},
  pages={
          714-22
        }
}
AIM Molybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes contribute to the synthesis of molybdenum cofactor, and SUOX gene encodes sulfite oxidase. The aim of this study was to elucidate the clinical… CONTINUE READING
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