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
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M et al.
Journal of Inherited Metabolic Disease, 2015
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