The increase of CoA induced by both compounds was smaller than that observed in a genetically corrected patient cell line overexpressing the wild-type PPCS gene (95595-T-PPCS) (Fig
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It is produced by melanocytes, which are specialised cells in the outer skin layer
With this early rescue dose, the patient likely survives because the dashed black curve in Panel B stays well above the 30% level for functional hepatocytes, which is thought to indicate liver failure
For both cohorts, animals were deeply anesthetised 90 min later (pentobarbital 100 mg/kg, i.p) and transcardially perfused with cold 0.1 M of phosphate buffer (PB) for 1.5 min followed by 4% of paraformaldehyde (PFA) in PB for 2.5 min
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