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Listen "Pharmacological chaperones in OTC deficiency"
Episode Synopsis
Can small molecules stabilise OTC enzyme activity and change the outlook for urea cycle disorders? Dr Alexander Laemmle (University Hospital Bern) discusses pharmacological chaperones, a novel approach that strengthens enzyme stability in patient-derived liver models and offers new hope for female OTC carriers.
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https://doi.org/10.1002/jimd.70043
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