A nationwide CTX study, a critical treatment window, and a conversation with the lead author. Dr Tanyel Zübarioğlu joins the JIMD Podcast to unpack the long-term impact of CDCA therapy and why timing matters more than ever.
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Tanyel Zubarioglu, et al
https://doi.org/10.1002/jimd.70069
Editorial Comment to Regulatory News
Carla E. M. Hollak, Natalja Bouwhuis
https://doi.org/10.1002/jimd.70071
All content for JIMD Podcasts is the property of Journal of Inherited Metabolic Disease and is served directly from their servers
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A nationwide CTX study, a critical treatment window, and a conversation with the lead author. Dr Tanyel Zübarioğlu joins the JIMD Podcast to unpack the long-term impact of CDCA therapy and why timing matters more than ever.
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Tanyel Zubarioglu, et al
https://doi.org/10.1002/jimd.70069
Editorial Comment to Regulatory News
Carla E. M. Hollak, Natalja Bouwhuis
https://doi.org/10.1002/jimd.70071
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.
Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models
Adhuresa Ramosaj, et al
https://doi.org/10.1002/jimd.70043
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation
Adhuresa Ramosaj et al
https://doi.org/10.1016/j.ymgmr.2023.101007
JIMD Podcasts
A nationwide CTX study, a critical treatment window, and a conversation with the lead author. Dr Tanyel Zübarioğlu joins the JIMD Podcast to unpack the long-term impact of CDCA therapy and why timing matters more than ever.
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Tanyel Zubarioglu, et al
https://doi.org/10.1002/jimd.70069
Editorial Comment to Regulatory News
Carla E. M. Hollak, Natalja Bouwhuis
https://doi.org/10.1002/jimd.70071
