Screening for organic acidurias and amino acidopathies in newborns and children

@article{Chalmers1980ScreeningFO,
  title={Screening for organic acidurias and amino acidopathies in newborns and children},
  author={Ronald A Chalmers and Paul Purkiss and Richard W. E. Watts and Alexander M. Lawson},
  journal={Journal of Inherited Metabolic Disease},
  year={1980},
  volume={3},
  pages={27-43}
}
This investigation was undertaken in order to define the place of multidisease screening for inborn errors of metabolism in paediatric practice with particular reference to the organic acidurias, and to compare the efficiency of organic acid screening as a detection method for inborn errors of metabolism with that of amino acid screening on urine. The clinical criteria adopted for the selection of patients were: (i) acute unexplained illness in the newborn or infant; (ii) unexplained… CONTINUE READING

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