6 results on '"Mayr, J.A."'
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2. Cofactor defects as a cause of mitochondrial encephalomyopathies
3. Sengers syndrome is caused by a deficiency of the acylglycerol kinase
4. 146 Difficulty in the diagnosis of X-linked PDHC deficiency due to a large deletion affecting the PDHA1 gene
5. 147 Compound heterozygosity for mutations in TMEM70
6. Biochemical consequences of a pathogenic A3243G mtDNA mutation
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