Search Results - "Geest, Ferdy S van"

Thyroid Hormone Transporters by Groeneweg, Stefan, van Geest, Ferdy S, Peeters, Robin P, Heuer, Heike, Visser, W Edward

“…Abstract Thyroid hormone transporters at the plasma membrane govern intracellular bioavailability of thyroid hormone. Monocarboxylate transporter (MCT) 8 and…”
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Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment by van Geest, Ferdy S., Groeneweg, Stefan, Visser, W. Edward

“…Defective thyroid hormone transport due to deficiency in thyroid hormone transporter monocarboxylate transporter 8 (MCT8) results in severe neurodevelopmental…”
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Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development by van Geest, Ferdy S, Gunhanlar, Nilhan, Groeneweg, Stefan, Visser, W Edward

“…Genetic defects in the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) result in MCT8 deficiency. This disorder is characterized by a…”
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Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series by 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

“…Abstract Context Genetic variants in SLC16A2, encoding the thyroid hormone transporter MCT8, can cause intellectual and motor disability and abnormal serum…”
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Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study by van Geest, Ferdy S, Groeneweg, Stefan, Popa, Veronica M, Stals, Milou A M, Visser, W Edward

“…Abstract Context Monocarboxylate transporter 8 (MCT8) deficiency is a rare neurodevelopmental and metabolic disorder, with daily care posing a heavy burden on…”
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Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4 by Groeneweg, Stefan, van Geest, Ferdy S, Chen, Zhongli, Farina, Stefania, van Heerebeek, Ramona E A, Meima, Marcel E, Peeters, Robin P, Heuer, Heike, Medici, Marco, Visser, W Edward

“…A recent genome-wide association study identified the locus associated with circulating free thyroxine (T4) concentrations. Human SLC17A4, being widely…”
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Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study by 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

“…Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having…”
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OR01-05 Long-Term Efficacy of T3 Analogue Triac in MCT8 Deficiency by Geest, Ferdy S van, Groeneweg, Stefan, Toor, Hans van, Wal, Ronald van der, Waart, Monique de, van den Berg, Sjoerd Adrianus Antonius, Peeters, Robin Patrick, Visser, W Edward

“…Abstract Background: MCT8 deficiency is a severe disorder caused by mutations in the thyroid hormone transporter MCT8. MCT8 deficiency is characterized by…”
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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study by 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

“…Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and…”
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