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As expected by the increased striatal DA, pathways signifying activation of signalling by G-protein-coupled receptors, transmission across chemical synapses and calcium signalling were all positively enriched at 3 months in iSPN + mut (Supplementary Table 1a), whereas genes associated with metabolic pathways such as oxidative phosphorylation (OxPhos) and respiratory electron transport ATP synthesis were significantly downregulated in iSPN + mut compared to iSPN+wt at 3 months (Fig

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Accordingly, we observed more male patients and fewer asymptomatic male carriers, whereas among females, this pattern was reversed, with more asymptomatic carriers than patients

This range helps doctors tailor treatments based on how bad the deficiency is and how well the patient responds