• DOI:10.1542/peds.2007-0391
Corpus ID: 4939996

Mitochondrial Disease: A Practical Approach for Primary Care Physicians

@article{Haas2007MitochondrialDA,
  title={Mitochondrial Disease: A Practical Approach for Primary Care Physicians},
  author={Richard H. Haas and Sumit Parikh and Marni J. Falk and R P Saneto and Nicole I. Wolf and Niklas Dar{\'i}n and Bruce H Cohen},
  journal={Pediatrics},
  year={2007},
  volume={120},
  pages={1326 - 1333}
}

Richard H. Haas, Sumit Parikh, +4 authors Bruce H Cohen

Published 2007

Medicine

Pediatrics

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… CONTINUE READING

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