Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

  title={Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?},
  author={Daniel Rabier and C. Diry and Agn{\'e}s Rotig and Pierre Rustin and B{\'e}n{\'e}dicte H{\'e}ron and J F Bardet and Ph. Parvy and G{\'e}rard Ponsot and C{\'e}cile Marsac and Jean Marie Saudubray and Arnold Munnich and Pierre P. Kamoun},
  journal={Journal of Inherited Metabolic Disease},
hypocitrullinaemia (\10 kmol/L) is one of the main biochemical characterSevere istics of two clinical situations : the disorders of mitochondrial urea-cycle enzymes (N-acetylglutamate synthase, carbamoylphosphate synthetase I (CPS-I) and ornithine carbamoyltransferase (OCT)) and the deÐciency of pyrroline-5-carboxylate synthetase and Kamoun Hypocitrullinaemia was also associated with (Rabier 1995). Pearson syndrome et al Here we report a new situation in which (Ribes 1993). hypocitrullinaemia… CONTINUE READING


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Biochemical and molecular investigations in the respiratory chain deÐciencies

  • P Rustin, D Chretien, T Bourgeron
  • Clin Chim Acta
  • 1994

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