Associated Papers
Ataxia As New Presentation of Likely Combined Oxidative Phosphorylation Deficiency 54 (COXPD54): A Case Report and Literature Review.
Bin Khunayfir A et al.
Movement Disorders Clinical Practice, 2025
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Smith TB et al.
European Journal of Human Genetics : Ejhg, 2023
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