The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with Lacticacidemia

@article{Robinson1990TheUO,
  title={The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with Lacticacidemia},
  author={B. H. Robinson and D. Moira Glerum and Wendy Chow and Roumyana Petrova-Benedict and Robert N Lightowlers and Roderick A. Capaldi},
  journal={Pediatric Research},
  year={1990},
  volume={28},
  pages={549-555}
}
ABSTRACT: Cultured skin fibroblasts from patients with lacticacidemia were incubated with glucose for 1 h and the lactate and pyruvate production measured. Those patients with increased lactate to pyruvate ratios were further analyzed for the cause of the abnormal redox state. Two categories of patients are described. The first contains patients with either severe or partial cytochrome oxidase deficiency; this group can be broken down further into patients with Leigh's disease, Kearns-Sayre… CONTINUE READING

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