The porphyrias, appropriate test selection.

@article{Hindmarsh2003ThePA,
  title={The porphyrias, appropriate test selection.},
  author={John Thomas Hindmarsh},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2003},
  volume={333 2},
  pages={
          203-7
        }
}
BACKGROUND Clinical and biochemical diagnosis of the porphyrias is a difficult task and is currently based upon review of the clinical features and measurement of the various porphyrin metabolites in body fluids. MATERIALS Different techniques are available for the diagnosis of the porphyrias and the identification of the eventual defect(s), ranging from simple biochemical measurement of aminolevulinic acid (ALA) and porphobilinogen (PBG) through enzymatic assays to the investigation of… CONTINUE READING
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