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Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development
Genetic defects in the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) result in MCT8 deficiency. This disorder is characterized by a combination of severe intellectual and motor disability, caused by decreased cerebral thyroid hormone signalling, and a chronic thyrotoxic state in p...
Autores principales: | van Geest, Ferdy S., Gunhanlar, Nilhan, Groeneweg, Stefan, Visser, W. Edward |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440930/ https://www.ncbi.nlm.nih.gov/pubmed/34539576 http://dx.doi.org/10.3389/fendo.2021.723750 |
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