A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

@article{Arnold2008ADC,
  title={A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.},
  author={Georgianne L. Arnold and Dwight D. Koeberl and Dietrich Matern and Bruce A Barshop and Nancy Braverman and Barbara K. Burton and Stephen Cederbaum and Annette Fiegenbaum and Cheryl L Garganta and James Gibson and Stephen Goodman and Cary O. Harding and Stephen G. Kahler and David F Kronn and Nicola Longo},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={93 4},
  pages={363-70}
}
3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was convened to develop consensus-based clinical practice guidelines for the diagnosis and management of 3-MCC screen-positive infants and their mothers. The Oxford Centre for Evidence… CONTINUE READING
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