Molecular and clinical aspects of peroxisomal diseases

@article{Shimozawa2007MolecularAC,
  title={Molecular and clinical aspects of peroxisomal diseases},
  author={Nobuyuki Shimozawa},
  journal={Journal of Inherited Metabolic Disease},
  year={2007},
  volume={30},
  pages={193-197}
}
SummaryPeroxisomal diseases, an expanding group of inborn errors of metabolism, can be classified into three categories—peroxisome biogenesis disorders (PBDs), single peroxisomal enzyme deficiencies, and contiguous gene syndrome. PBDs comprise 13 complementation groups and their responsible genes have been identified, including our newly identified group with a PEX14 defect. We have established a diagnostic system of peroxisomal diseases in Japan, and have identified 40 Japanese with PBDs, 11… CONTINUE READING
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