Mitochondrial Disease: A Practical Approach for Primary Care Physicians

@article{Haas2007MitochondrialDA,
  title={Mitochondrial Disease: A Practical Approach for Primary Care Physicians},
  author={R. Haas and S. Parikh and M. Falk and R. Saneto and N. Wolf and N. Dar{\'i}n and B. Cohen},
  journal={Pediatrics},
  year={2007},
  volume={120},
  pages={1326 - 1333}
}
Notorious variability in the presentation of mitochondrial disease in the infant and young child complicates its clinical diagnosis. Mitochondrial disease is not a single entity but, rather, a heterogeneous group of disorders characterized by impaired energy production due to genetically based oxidative phosphorylation dysfunction. Together, these disorders constitute the most common neurometabolic disease of childhood with an estimated minimal risk of developing mitochondrial disease of 1 in… Expand
234 Citations

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