The porphyrias: advances in diagnosis and treatment.

@article{Balwani2012ThePA,
  title={The porphyrias: advances in diagnosis and treatment.},
  author={Manisha Balwani and Robert J Desnick},
  journal={Blood},
  year={2012},
  volume={120 23},
  pages={
          4496-504
        }
}
The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as "acute hepatic," "hepatic cutaneous," and "erythropoietic cutaneous" diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of… CONTINUE READING
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