• DOI:10.1016/S0140-6736(15)00124-5
Corpus ID: 21954888

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}
}

• B. Schwahn, F. Spronsen, +17 authors G. Schwarz
• Published 2015
• Medicine
• The Lancet

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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