Associated Papers
Vanishing white matter in multiple mitochondrial dysfunction syndrome-2 due to compound heterozygosity for novel BOLA3 variants.
Finsterer J
Revue Neurologique, 2023
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.
Meldau S et al.
Journal of Clinical Pathology, 2022
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Meldau S et al.
Molecular Genetics and Metabolism Reports, 2020
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