Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. [electronic resource]
Producer: 20211005Description: 1024-1036 p. digitalISSN:- 1573-2665
- Acidosis, Lactic -- pathology
- Brain Diseases -- pathology
- Child, Preschool
- Electron Transport Complex IV -- metabolism
- Family
- Female
- Homozygote
- Humans
- Hydrogen Sulfide -- chemistry
- Kinetics
- Leigh Disease -- enzymology
- Magnetic Resonance Imaging
- Male
- Mitochondria -- metabolism
- Oxidation-Reduction
- Oxidoreductases Acting on Sulfur Group Donors -- genetics
- Quinone Reductases -- chemistry
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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