Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment

por van Geest, Ferdy S., Groeneweg, Stefan, Visser, W. Edward
Publicado 2021

Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development

por van Geest, Ferdy S., Gunhanlar, Nilhan, Groeneweg, Stefan, Visser, W. Edward
Publicado 2021

SAT-434 Phenotype and Genotype Analysis of Patients with Resistance to Thyroid Hormone β: A Single-Center Experience

por Wejaphikul, Karn, Dejkhamron, Prapai, Groeneweg, Stefan, Visser, W Edward, Unachak, Kevalee, Meima, Marcel E, Peeters, Robin P
Publicado 2020

Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β

por Wejaphikul, Karn, Groeneweg, Stefan, Hilhorst-Hofstee, Yvonne, Chatterjee, V Krishna, Peeters, Robin P, Meima, Marcel E, Visser, W Edward
Publicado 2019

Insights Into the Mechanism of MCT8 Oligomerization

por Groeneweg, Stefan, van den Berge, Amanda, Lima de Souza, Elaine C, Meima, Marcel E, Peeters, Robin P, Visser, W Edward
Publicado 2020

Thyroid Hormone Transporters in a Human Placental Cell Model

por Chen, Zhongli, van der Sman, A.S. Elise, Groeneweg, Stefan, de Rooij, Linda Johanna, Visser, W. Edward, Peeters, Robin P., Meima, Marcel E.
Publicado 2022

OR01-05 Long-Term Efficacy of T3 Analogue Triac in MCT8 Deficiency

por van Geest, Ferdy S, Groeneweg, Stefan, van Toor, Hans, van der Wal, Ronald, de Waart, Monique, van den Berg, Sjoerd Adrianus Antonius, Peeters, Robin Patrick, Visser, W Edward
Publicado 2020

Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

por van Geest, Ferdy S, Meima, Marcel E, Stuurman, Kyra E, Wolf, Nicole I, van der Knaap, Marjo S, Lorea, Cláudia F, Poswar, Fabiano O, Vairo, Filippo, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Bakhtiani, Priyanka, de Munnik, Sonja A, Peeters, Robin P, Visser, W Edward, Groeneweg, Stefan
Publicado 2020

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

por Schoenmakers, Erik, Marelli, Federica, Jørgensen, Helle F., Visser, W. Edward, Moran, Carla, Groeneweg, Stefan, Avalos, Carolina, Jurgens, Sean J., Figg, Nichola, Finigan, Alison, Wali, Neha, Agostini, Maura, Wardle-Jones, Hannah, Lyons, Greta, Rusk, Rosemary, Gopalan, Deepa, Twiss, Philip, Visser, Jacob J., Goddard, Martin, Nashef, Samer A. M., Heijmen, Robin, Clift, Paul, Sinha, Sanjay, Pirruccello, James P., Ellinor, Patrick T., Busch-Nentwich, Elisabeth M., Ramirez-Solis, Ramiro, Murphy, Michael P., Persani, Luca, Bennett, Martin, Chatterjee, Krishna
Publicado 2023

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

por van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Monti Lora, Felipe, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Hans, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, Visser, W Edward
Publicado 2021

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

por Teumer, Alexander, Chaker, Layal, Groeneweg, Stefan, Li, Yong, Di Munno, Celia, Barbieri, Caterina, Schultheiss, Ulla T., Traglia, Michela, Ahluwalia, Tarunveer S., Akiyama, Masato, Appel, Emil Vincent R., Arking, Dan E., Arnold, Alice, Astrup, Arne, Beekman, Marian, Beilby, John P., Bekaert, Sofie, Boerwinkle, Eric, Brown, Suzanne J., De Buyzere, Marc, Campbell, Purdey J., Ceresini, Graziano, Cerqueira, Charlotte, Cucca, Francesco, Deary, Ian J., Deelen, Joris, Eckardt, Kai-Uwe, Ekici, Arif B., Eriksson, Johan G., Ferrrucci, Luigi, Fiers, Tom, Fiorillo, Edoardo, Ford, Ian, Fox, Caroline S., Fuchsberger, Christian, Galesloot, Tessel E., Gieger, Christian, Gögele, Martin, De Grandi, Alessandro, Grarup, Niels, Greiser, Karin Halina, Haljas, Kadri, Hansen, Torben, Harris, Sarah E., van Heemst, Diana, den Heijer, Martin, Hicks, Andrew A., den Hollander, Wouter, Homuth, Georg, Hui, Jennie, Ikram, M. Arfan, Ittermann, Till, Jensen, Richard A., Jing, Jiaojiao, Jukema, J. Wouter, Kajantie, Eero, Kamatani, Yoichiro, Kasbohm, Elisa, Kaufman, Jean-Marc, Kiemeney, Lambertus A., Kloppenburg, Margreet, Kronenberg, Florian, Kubo, Michiaki, Lahti, Jari, Lapauw, Bruno, Li, Shuo, Liewald, David C. M., Lim, Ee Mun, Linneberg, Allan, Marina, Michela, Mascalzoni, Deborah, Matsuda, Koichi, Medenwald, Daniel, Meisinger, Christa, Meulenbelt, Ingrid, De Meyer, Tim, Meyer zu Schwabedissen, Henriette E., Mikolajczyk, Rafael, Moed, Matthijs, Netea-Maier, Romana T., Nolte, Ilja M., Okada, Yukinori, Pala, Mauro, Pattaro, Cristian, Pedersen, Oluf, Petersmann, Astrid, Porcu, Eleonora, Postmus, Iris, Pramstaller, Peter P., Psaty, Bruce M., Ramos, Yolande F. M., Rawal, Rajesh, Redmond, Paul, Richards, J. Brent, Rietzschel, Ernst R., Rivadeneira, Fernando, Roef, Greet, Rotter, Jerome I., Sala, Cinzia F., Schlessinger, David, Selvin, Elizabeth, Slagboom, P. Eline, Soranzo, Nicole, Sørensen, Thorkild I. A., Spector, Timothy D., Starr, John M., Stott, David J., Taes, Youri, Taliun, Daniel, Tanaka, Toshiko, Thuesen, Betina, Tiller, Daniel, Toniolo, Daniela, Uitterlinden, Andre G., Visser, W. Edward, Walsh, John P., Wilson, Scott G., Wolffenbuttel, Bruce H. R., Yang, Qiong, Zheng, Hou-Feng, Cappola, Anne, Peeters, Robin P., Naitza, Silvia, Völzke, Henry, Sanna, Serena, Köttgen, Anna, Visser, Theo J., Medici, Marco
Publicado 2018