Browsing by Author "f65b48c0-f059-4479-8280-15bcb007d285"

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    • Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation 
      Friesema, Edith C H; Grueters, Prof Annette; Biebermann, Heike; Krude, Heiko; Von Moers, Arpad; Reeser, Maarten; Barrett, Timothy G.; Mancilla, Edna E.; Svensson, Johan; Kester, Monique H A; Kuiper, George G J M; Balkassmi, Sahila; Uitterlinden, André G.; Koehrle, Pro (2004)
      Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine ...
    • Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor ... 
      Jansen, Jurgen; Friesema, Edith C. H.; Kester, Monique H. A.; Milici, Carmelina; Reeser, Maarten; Grüeters, Annette; Barrett, Timothy G.; Mancilla Vergara, Edna; Svensson, Johan; Wemeau, Jean-Louis; Busi da Silva Canalli, Maria Heloisa; Lundgren, Johan; McEntagart, Meriel E.; Hopper, Neil; Arts, Willem Frans; Visser, Theo J. (2007)
      Context: T-3 action in neurons is essential for brain development. Recent evidence indicates that monocarboxylate transporter 8 (MCT8) is important for neuronal T-3 uptake. Hemizygous mutations have been identified in the ...