Associated Papers
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.
DiFalco CR et al.
Molecular Genetics and Metabolism, 2025
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
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Gijavanekar C et al.
Current Protocols, 2023
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