Associated Papers
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Tauchmannová K et al.
Physiological Research, 2024
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Mackay L et al.
American Journal of Medical Genetics. Part A, 2023
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
Staretz-Chacham O et al.
American Journal of Medical Genetics. Part A, 2019
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