Browsing by Author "ec28b0f2-ffea-4baf-aff2-a43086c48b7b"

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    • Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations 
      Visser, W. Edward; Jansen, Jurgen; Friesema, Edith C.H.; Kester, Monique H.A.; Mancilla, Edna; Lundgren, Johan; Van Der Knaap, Marjo S.; Lunsing, Roelineke J.; Brouwer, Oebele F.; Visser, Theo J. (2009)
      Monocarboxylate transporter 8 (MCT8; approved symbol SLC16A2) facilitates cellular uptake and efflux of 3,3′,5-triiodothyronine (T3). Mutations in MCT8 are associated with severe psychomotor retardation, high serum T3 and ...