Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Autor: Anina Enderli, Krishna Chatterjee, David A. Koolen, Jana Malikova, Paul Dimitri, Roelineke J. Lunsing, Patricia Crock, Charles Marques Lourenço, Corstiaan A. den Uil, Ferdy S van Geest, Jan Lebl, Christine M. Armour, Michaela Linder-Lucht, Tony Huynh, Annette Hackenberg, Zita Halász, Jan Fairchild, Francesco Porta, Adri van der Walt, Verónica Mericq, Gautem P. Ambegaonkar, Nitash Zwaveling-Soonawala, Daniel Konrad, D Barca, Barbara Castellotti, Cláudia Fernandes Lorea, Anna Dolcetta-Capuzzo, Peter J Simm, Heiko Krude, Evelien F. Gevers, Ayhan Abaci, Claudia Castiglioni, Jet van der Spek, Jolante Wierzba, Carla Moran, Serap Turan, Isabelle Oliver-Petit, Felipe Monti Lora, Amnon Zung, Klara Rozenkova, Nicola Brunetti-Pierri, Fabiano de Oliveira Poswar, W. Edward Visser, Gopinath M. Subramanian, Bianka Heinrich, Irenaeus F.M. de Coo, Milou A.M. Stals, Belinda George, Michael Wurm, Alice Dica, Amy Lawson-Yuen, Rachana Dubey, Christina Reinauer, Athanasia Stoupa, Stefan Groeneweg, Joel Vanderniet, Marjolein H G Dremmen, Marie Claire Y. de Wit, Marjo S. van der Knaap, Edna E. Mancilla, Dana Craiu, Korcan Demir, Greta Lyons, Gerarda Cappuccio, Jean Louis Wémeau, Yogen Singh, Anne McGowan, Alberto Alcantud, Praveen G. Paul, Enrico Bertini, Laura Paone, Marco Spada, Régis Coutant, Marco Cappa, Ingrid M. van Beynum, Jonathan Gallichan, Nicole I. Wolf, Michel Polak, Marieke M. van der Knoop, Christian DeGoede, Davide Tonduti, Federica Zibordi, Tuba Seven Menevse, Katalin Eszter Müller, Anna Simon, Marianna Bugiani, Priyanka Bakhtiani, Anna Kłosowska

Publikováno v: The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier
Groeneweg, S, van Geest, F S, Abacı, A, Alcantud, A, Ambegaonkar, G P, Armour, C M, Bakhtiani, P, Barca, D, Bertini, E S, van Beynum, I M, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, I F M, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, M H G, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, E F, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Kłosowska, A, van der Knaap, M S, van der Knoop, M M, Konrad, D, Koolen, D A, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, C F, Lourenço, C M, Lunsing, R J, Lyons, G, Malikova, J, Mancilla, E E, McGowan, A, Mericq, V, Lora, F M, Moran, C, Müller, K E, Oliver-Petit, I, Paone, L, Paul, P G, Polak, M, Porta, F, Poswar, F O, Reinauer, C, Rozenkova, K, Menevse, T S, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, M A M, Stoupa, A, Subramanian, G M, Tonduti, D, Turan, S, den Uil, C A, Vanderniet, J, van der Walt, A, Wémeau, J L, Wierzba, J, de Wit, M C Y, Wolf, N I, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N & Visser, W E 2020, ' Disease characteristics of MCT8 deficiency : an international, retrospective, multicentre cohort study ', The Lancet Diabetes and Endocrinology, vol. 8, no. 7, pp. 594-605 . https://doi.org/10.1016/S2213-8587(20)30153-4
LANCET DIABETES & ENDOCRINOLOGY
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Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
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Lancet Diabetes & Endocrinology, 8, 594-605
Lancet Diabetes & Endocrinology, 8, 7, pp. 594-605
Lancet Diabetes & Endocrinology, 8(7), 594-605. ELSEVIER SCIENCE INC
The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier BV
Lancet. Diabetes and endocrinology, 8(7), 594-605. Elsevier BV

Contains fulltext : 220431.pdf (Publisher’s version ) (Closed access) BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1c046b02fa1870d7b9cb9b1d6aed73
https://pure.eur.nl/en/publications/15af8d51-7430-4e63-bbce-74824120e8fa

G400(P) Two cases of mild encephalopathy with a reversible splenial lesion (MERS)

Autor: Amine Awad, P Nair, Christian DeGoede, Rachel Kneen, K Rakshi, Shivaram Avula, Anand Iyer

Publikováno v: British Inherited Metabolic Disease Group and British Paediatric Neurology Association.

Introduction Mild Encephalopathy with Reversible Splenial lesion (MERS) is a newly-proposed clinical-radiological para/post infectious syndrome characterised by an acute, transient encephalopathy and radiological evidence of a reversible lesion in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f72d1a018597c11e5174c5a1d4f3e55d
https://doi.org/10.1136/archdischild-2017-313087.393