Associated Papers
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ et al.
International Journal of Molecular Sciences, 2022
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