Associated Papers
Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.
Qin Z et al.
Molecular Genetics & Genomic Medicine, 2020
Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.
Bartsakoulia M et al.
Journal of Neuromuscular Diseases, 2016
Reversible infantile mitochondrial diseases.
Boczonadi V et al.
Journal of Inherited Metabolic Disease, 2015
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.
Gaignard P et al.
Jimd Reports, 2013
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
Schara U et al.
Journal of Inherited Metabolic Disease, 2011
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Kemp JP et al.
Brain : a Journal of Neurology, 2011
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