Associated Papers
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ et al.
Molecular Genetics and Metabolism, 2018
Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.
Bartsakoulia M et al.
Journal of Neuromuscular Diseases, 2016
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
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