Groeneweg, Stefan and van Geest, Ferdy S. and Abaci, Ayhan and Alcantud, Alberto and Ambegaonkar, Gautem P. and Armour, Christine M. and Bakhtiani, Priyanka and Barca, Diana and Bertini, Enrico S. and van Beynum, Ingrid M. and Brunetti-Pierri, Nicola and Bugiani, Marianna and Cappa, Marco and Cappuccio, Gerarda and Castellotti, Barbara and Castiglioni, Claudia and Chatterjee, Krishna and de Coo, Irenaeus F. M. and Coutant, Regis and Craiu, Dana and Crock, Patricia and DeGoede, Christian and Demir, Korcan and Dica, Alice and Dimitri, Paul and Dolcetta-Capuzzo, Anna and Dremmen, Marjolein H. G. and Dubey, Rachana and Enderli, Anina and Fairchild, Jan and Gallichan, Jonathan and George, Belinda and Gevers, Evelien F. and Hackenberg, Annette and Halasz, Zita and Heinrich, Bianka and Huynh, Tony and Klosowska, Anna and van der Knaap, Marjo S. and van der Knoop, Marieke M. and Konrad, Daniel and Koolen, David A. and Krude, Heiko and Lawson-Yuen, Amy and Lebl, Jan and Linder-Lucht, Michaela and Lorea, Claudia F. and Lourenco, Charles M. and Lunsing, Roelineke J. and Lyons, Greta and Malikova, Jana and Mancilla, Edna E. and McGowan, Anne and Mericq, Veronica and Lora, Felipe M. and Moran, Carla and Mueller, Katalin E. and Oliver-Petit, Isabelle and Paone, Laura and Paul, Praveen G. and Polak, Michel and Porta, Francesco and Poswar, Fabiano O. and Reinauer, Christina and Rozenkova, Klara and Menevse, Tuba S. and Simm, Peter and Simon, Anna and Singh, Yogen and Spada, Marco and van der Spek, Jet and Stals, Milou A. M. and Stoupa, Athanasia and Subramanian, Gopinath M. and Tonduti, Davide and Turan, Serap and den Uil, Corstiaan A. and Vanderniet, Joel and van der Walt, Adri and Wemeau, Jean-Louis and Wierzba, Jolante and de Wit, Marie-Claire Y. and Wolf, Nicole and Wurm, Michael and Zibordi, Federica and Zung, Amnon and Zwaveling-Soonawala, Nitash and Visser, W. Edward (2020) Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. LANCET DIABETES & ENDOCRINOLOGY, 8 (7). pp. 594-605. ISSN 2213-8587, 2213-8595
Full text not available from this repository. (Request a copy)Abstract
Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. p p p Interpretation Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MONOCARBOXYLATE TRANSPORTER-8; PSYCHOMOTOR RETARDATION; HEART-RATE; HORMONE; MUTATIONS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 19 Mar 2021 09:18 |
| Last Modified: | 19 Mar 2021 09:18 |
| URI: | https://pred.uni-regensburg.de/id/eprint/44301 |
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