Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review

INTRODUCTION: The SCL16A2 gene encodes the thyroid hormone (TH) transporter MCT8. Pathogenic variants result in a reduced TH uptake into the CNS despite high serum T3 concentrations. Patients suffer from severe neurodevelopmental delay and require multidisciplinary care. Since a first compassionate...

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Detalles Bibliográficos
Autores principales: Wilpert, Nina-Maria, Tonduti, Davide, Vaia, Ylenia, Krude, Heiko, Sarret, Catherine, Schuelke, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10595182/
https://www.ncbi.nlm.nih.gov/pubmed/37881807
http://dx.doi.org/10.2147/NDT.S379703

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10595182/
https://www.ncbi.nlm.nih.gov/pubmed/37881807
http://dx.doi.org/10.2147/NDT.S379703

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