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

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

Publikováno v: In The Lancet Diabetes & Endocrinology July 2020 8(7):594-605

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Autor: Groeneweg, Stefan, Peeters, Robin P, Moran, Carla, Stoupa, Athanasia, Auriol, Françoise, Tonduti, Davide, Dica, Alice, Paone, Laura, Rozenkova, Klara, Malikova, Jana, van der Walt, Adri, de Coo, Irenaeus F M, McGowan, Anne, Lyons, Greta, Aarsen, Femke K, Barca, Diana, van Beynum, Ingrid M, van der Knoop, Marieke M, Jansen, Jurgen, Manshande, Martien ^*, Lunsing, Roelineke J, Nowak, Stan, den Uil, Corstiaan A, Zillikens, M Carola, Visser, Frank E, Vrijmoeth, Paul, de Wit, Marie Claire Y, Wolf, Nicole I, Zandstra, Angelique, Ambegaonkar, Gautam, Singh, Yogen, de Rijke, Yolanda B, Medici, Marco, Bertini, Enrico S, Depoorter, Sylvia, Lebl, Jan, Cappa, Marco, De Meirleir, Linda ^*, Krude, Heiko, Craiu, Dana, Zibordi, Federica, Oliver Petit, Isabelle, Polak, Michel, Chatterjee, Krishna, Visser, Theo J ^*, Visser, W Edward ^*

Publikováno v: In The Lancet Diabetes & Endocrinology September 2019 7(9):695-706

Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults.

Autor: Nannette, Gaëlle, Bar, Céline, Diene, Gwenaëlle, Pienkowski, Catherine, Oliver-Petit, Isabelle, Jouret, Béatrice, Cartault, Audrey, Porquet-Bordes, Valérie, Salles, Jean-Pierre, Grunenwald, Solange, Edouard, Thomas, Molinas, Catherine, Tauber, Maithé

Publikováno v: Journal of Clinical Endocrinology & Metabolism; Feb2023, Vol. 108 Issue 2, p323-330, 8p

Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation.

Autor: Oliver‐Petit, Isabelle¹, Savagner, Frédérique², Grunenwald, Solange³, Vialon, Magaly³, Edouard, Thomas¹, Caron, Philippe³ caron.p@chu-toulouse.fr

Publikováno v: Clinical Case Reports. Dec2017, Vol. 5 Issue 12, p1980-1987. 8p.

Les nouvelles maladies héréditaires du métabolisme du programme français de dépistage néonatal. (French)

Autor: Touati, Guy, Gorce, Magali, Oliver-Petit, Isabelle, Broué, Pierre, Ausseil, Jérôme

Publikováno v: Médecine Sciences; mai2021, Vol. 37 Issue 5, p507-518, 12p