Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

@article{Schwahn2015EfficacyAS,
  title={Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study},
  author={B. Schwahn and F. Spronsen and A. Belaidi and S. Bowhay and J. Christodoulou and T. Derks and J. Hennermann and E. Jameson and K. K{\"o}nig and T. McGregor and E. Font-Montgomery and J. Santamaria-Araujo and S. Santra and M. Vaidya and A. Vierzig and E. Wassmer and Ilona Weis and F. Wong and A. Veldman and G. Schwarz},
  journal={The Lancet},
  year={2015},
  volume={386},
  pages={1955-1963}
}
BACKGROUND Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful. After a pioneering single treatment we now report the outcome of the complete first cohort of patients receiving substitution treatment with cyclic pyranopterin monophosphate (cPMP), a biosynthetic precursor of the cofactor. METHODS In this… Expand
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5
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References

SHOWING 1-10 OF 23 REFERENCES
Timing of Cerebral Developmental Disruption in Molybdenum Cofactor Deficiency
Clinical neuroimaging features and outcome in molybdenum cofactor deficiency.
Molybdenum cofactor biosynthesis and deficiency
  • G. Schwarz
  • Chemistry, Medicine
  • Cellular and Molecular Life Sciences CMLS
  • 2005
...
1
2
3
...