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1Academic Journal
المؤلفون: Schoenmakers, E, Marelli, F, Jørgensen, HF, Visser, WE, Moran, C, Groeneweg, S, Avalos, C, Jurgens, SJ, Figg, N, Finigan, A, Wali, N, Agostini, M, Wardle-Jones, H, Lyons, G, Rusk, R, Gopalan, D, Twiss, P, Visser, JJ, Goddard, M, Nashef, SAM, Heijmen, R, Clift, P, Sinha, S, Pirruccello, JP, Ellinor, PT, Busch-Nentwich, EM, Ramirez-Solis, R, Murphy, MP, Persani, L, Bennett, M, Chatterjee, K
Relation: Nature Communications; 7994; https://qmro.qmul.ac.uk/xmlui/handle/123456789/92680
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2Academic Journal
المؤلفون: van Geest, FS, Groeneweg, S, van den Akker, ELT, Bacos, I, Barca, D, van den Berg, SAA, Bertini, E, Brunner, D, Brunetti-Pierri, N, Cappa, M, Cappuccio, G, Chatterjee, K, Chesover, AD, Christian, P, Coutant, R, Craiu, D, Crock, P, Dewey, C, Dica, A, Dimitri, P, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, Garibaldi, LR, George, B, Hackenberg, A, Heinrich, B, Huynh, T, Kłosowska, A, Lawson-Yuen, A, Linder-Lucht, M, Lyons, G, Monti Lora, F, Moran, C, Müller, KE, Paone, L, Paul, PG, Polak, M, Porta, F, Reinauer, C, de Rijke, YB, Seckold, R, Menevşe, TS, Simm, P, Simon, A, Spada, M, Stoupa, A, Szeifert, L, Tonduti, D, van Toor, H, Turan, S, Vanderniet, J, de Waart, M, van der Wal, R, van der Walt, A, van Wermeskerken, A-M, Wierzba, J, Zibordi, F, Zung, A, Peeters, RP, Visser, WE
Relation: pii: 6408637; van Geest, F. S., Groeneweg, S., van den Akker, E. L. T., Bacos, I., Barca, D., van den Berg, S. A. A., Bertini, E., Brunner, D., Brunetti-Pierri, N., Cappa, M., Cappuccio, G., Chatterjee, K., Chesover, A. D., Christian, P., Coutant, R., Craiu, D., Crock, P., Dewey, C., Dica, A. ,. Visser, W. E. (2022). Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. Journal of Clinical Endocrinology and Metabolism, 107 (3), pp.e1136-e1147. https://doi.org/10.1210/clinem/dgab750.; http://hdl.handle.net/11343/307712
الاتاحة: http://hdl.handle.net/11343/307712
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3Academic Journal
المؤلفون: Groeneweg, S, van Geest, FS, Abacı, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Kłosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenço, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Müller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wémeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, NI, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/180034/1/EMS137436.pdf; Groeneweg, S, van Geest, FS, Abacı, A et al. (85 more authors) (2020) Disease characteristics of MCT8 deficiency : an international, retrospective, multicentre cohort study. The Lancet Diabetes & Endocrinology, 8 (7). pp. 594-605. ISSN 2213-8587
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4Electronic Resource
المؤلفون: Schoenmakers, E., Marelli, F., Jørgensen, H.F., Visser, Wesley J., Moran, C., Groeneweg, S., Avalos, C., Jurgens, S.J., Figg, N., Finigan, A., Wali, N., Agostini, M., Wardle-Jones, H., Lyons, G., Rusk, R., Gopalan, D., Twiss, P., Visser, J.J.C.M., Goddard, M., Nashef, S.A.M., Heijmen, R.H., Clift, P., Sinha, S., Pirruccello, J.P., Ellinor, P.T., Busch-Nentwich, E.M., Ramirez-Solis, R., Murphy, M.P., Persani, L., Bennett, M., Chatterjee, K.
المصدر: Nature Communications, 14, 1, pp. 7994
مصطلحات الفهرس: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research Cardio Thoracic Surgery, Article / Letter to editor
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5Academic Journal
المؤلفون: Groeneweg, S, Peeters, RP, Moran, C, Stoupa, MA, Auriol, F, Tonduti, D, Dica, A, Paone, L, Rozenkova, K, Malikova, J, van der Walt, A, de Coo, IFM, McGowan, A, Lyons, G, Aarsen, RFK, Barca, PD, van Beynu, IM, van der Knoop, MM, Jansen, J, Manshande, M, Lunsing, RJ, Nowak, S, den Uil, CA, Zillikens, MC, Visser, FE, Vrijoeth, P, de Wit, MCY, Wolf, NI, Zandstra, A, Abegaonkar, G, Singh, Y, de Rijke, YB, Medici, M, Bertini, ES, Depoorter, S, Lebl, J, Cappa, M, De Meirleir, L, Krude, H, Craiu, D, Zibordi, F, Petit, IO, Polak, M, Chatterjee, K, Visser, TJ, Visser, WE
المساهمون: S. Groeneweg, R. Peeter, C. Moran, M. Stoupa, F. Auriol, D. Tonduti, A. Dica, L. Paone, K. Rozenkova, J. Malikova, A. van der Walt, I. de Coo, A. Mcgowan, G. Lyon, R. Aarsen, P. Barca, I. van Beynu, M. van der Knoop, J. Jansen, M. Manshande, R. Lunsing, S. Nowak, C. den Uil, M. Zilliken, F. Visser, P. Vrijoeth, M. de Wit, N. Wolf, A. Zandstra, G. Abegaonkar, Y. Singh, Y. de Rijke, M. Medici, E. Bertini, S. Depoorter, J. Lebl, M. Cappa, L. De Meirleir, H. Krude, D. Craiu, F. Zibordi, I. Petit, M. Polak, K. Chatterjee, T. Visser, W. Visser
مصطلحات موضوعية: Settore MED/39 - Neuropsichiatria Infantile
Relation: info:eu-repo/semantics/altIdentifier/pmid/31377265; info:eu-repo/semantics/altIdentifier/wos/WOS:000482132700020; volume:7; issue:9; firstpage:695; lastpage:706; numberofpages:12; journal:THE LANCET DIABETES & ENDOCRINOLOGY; https://hdl.handle.net/2434/938856; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070859264
الاتاحة: https://hdl.handle.net/2434/938856
https://doi.org/10.1016/S2213-8587(19)30155-X -
6Academic Journal
المؤلفون: Teumer, A., Chaker, L., Groeneweg, S., Li, Y., Di Munno, C., Barbieri, C., Schultheiss, U.T., Traglia, M., Ahluwalia, T.S., Akiyama, M., Appel, EVR, Arking, D.E., Arnold, A., Astrup, A., Beekman, M., Beilby, J.P., Bekaert, S., Boerwinkle, E., Brown, S.J., De Buyzere, M., Campbell, P.J., Ceresini, G., Cerqueira, C., Cucca, F., Deary, I.J., Deelen, J., Eckardt, K.U., Ekici, A.B., Eriksson, J.G., Ferrrucci, L., Fiers, T., Fiorillo, E., Ford, I., Fox, C.S., Fuchsberger, C., Galesloot, T.E., Gieger, C., Gögele, M., De Grandi, A., Grarup, N., Greiser, K.H., Haljas, K., Hansen, T., Harris, S.E., van Heemst, D., den Heijer, M., Hicks, A.A., den Hollander, W., Homuth, G., Hui, J., Ikram, M.A., Ittermann, T., Jensen, R.A., Jing, J., Jukema, J.W., Kajantie, E., Kamatani, Y., Kasbohm, E., Kaufman, J.M., Kiemeney, L.A., Kloppenburg, M., Kronenberg, F., Kubo, M., Lahti, J., Lapauw, B., Li, S., Liewald, DCM, Lim, E.M., Linneberg, A., Marina, M., Mascalzoni, D., Matsuda, K., Medenwald, D., Meisinger, C., Meulenbelt, I., De Meyer, T., Meyer Zu Schwabedissen, H.E., Mikolajczyk, R., Moed, M., Netea-Maier, R.T., Nolte, I.M., Okada, Y., Pala, M., Pattaro, C., Pedersen, O., Petersmann, A., Porcu, E., Postmus, I., Pramstaller, P.P., Psaty, B.M., Ramos, YFM, Rawal, R., Redmond, P., Richards, J.B., Rietzschel, E.R., Rivadeneira, F., Roef, G., Rotter, J.I., Sala, C.F., Schlessinger, D., Selvin, E., Slagboom, P.E., Soranzo, N., Sørensen, TIA, Spector, T.D., Starr, J.M., Stott, D.J., Taes, Y., Taliun, D., Tanaka, T., Thuesen, B., Tiller, D., Toniolo, D., Uitterlinden, A.G., Visser, W.E., Walsh, J.P., Wilson, S.G., Wolffenbuttel, BHR, Yang, Q., Zheng, H.F., Cappola, A., Peeters, R.P., Naitza, S., Völzke, H., Sanna, S., Köttgen, A., Visser, T.J., Medici, M.
المساهمون: Lifelines Cohort Study, Alizadeh, B.Z., Boezen, H.M., Franke, L., van der Harst, P., Navis, G., Rots, M., Snieder, H., Swertz, M.A., Wijmenga, C.
المصدر: Nature communications, vol. 9, no. 1, pp. 4455
مصطلحات موضوعية: 2-Aminoadipate Transaminase/genetics, 2-Aminoadipate Transaminase/metabolism, Animals, Biological Transport, COS Cells, Cercopithecus aethiops, European Continental Ancestry Group, Gene Expression Regulation/genetics, Genome-Wide Association Study, Humans, Hyperthyroidism/genetics, Hyperthyroidism/physiopathology, Hypothyroidism/genetics, Hypothyroidism/physiopathology, Polymorphism, Single Nucleotide, Risk Factors, Sodium-Phosphate Cotransporter Proteins, Type I/genetics, Type I/metabolism, Thyroid Gland/metabolism, Thyroid Gland/physiopathology, Thyroid Hormones/genetics, Thyroid Hormones/metabolism, Thyrotropin/metabolism
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/30367059; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_ED0E30FBA8669; https://serval.unil.ch/notice/serval:BIB_ED0E30FBA866; https://serval.unil.ch/resource/serval:BIB_ED0E30FBA866.P001/REF.pdf
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7Academic Journal
المؤلفون: Stromme, P, Groeneweg, S, Lima de Souza, EC, Zevenbergen, C, Torgersbråten, A, Holmgren, A, Gurcan, E, Meima, M, Peeters, R, Visser, WE, Høneren Johansson, L, Babovic, A, Zetterberg, H, Heuer, H, Frengen, E, Misceo, D, Visser, TJ
المصدر: Thyroid , 28 (11) pp. 1406-1415. (2018)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10061204/1/Zetterberg_Str%C3%B8mme.pdf; https://discovery.ucl.ac.uk/id/eprint/10061204/
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8Academic Journal
المؤلفون: Groeneweg, S., Geest, F.S. van, Chen, Z., Farina, S., Heerebeek, R.E.A. van, Meima, M.E., Peeters, R.P., Heuer, H., Medici, M., Visser, Wesley J.
المصدر: Thyroid, 32, 3, pp. 326-335
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9Report
المؤلفون: AnovoRx, Egetis Therapeutics
المصدر: Expanded Access Program for Tiratricol in Patients with Monocarboxylate Transporter 8 Deficiency Also Known As Allan-Herndon-Dudley Syndrome (AHDS)
Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE. 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. Lancet Diabetes Endocrinol. 2019 Sep;7(9):695-706. doi: 10.1016/S2213-8587(19)30155-X. Epub 2019 Jul 31.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Klosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Muller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevse TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. -
10Academic Journal
المؤلفون: Geest, F.S. (Ferdy) van, Meima, M.E. (Marcel), Stuurman, K.E. (Kyra), Wolf, N.I. (Nicole I.), van der Knaap, M.S. (Marjo S.), Lorea, C.F. (Cláudia F), Poswar, F.O. (Fabiano O.), Vairo, F. (Filippo), Brunetti-Pierri, N. (Nicola), Cappuccio, G. (Gerarda), Bakhtiani, P. (Priyanka), Munnik, S.A. (Sonja) de, Peeters, R.P. (Robin), Visser, W.E. (Edward), Groeneweg, S. (Stefan)
المصدر: Journal of Clinical Endocrinology and Metabolism vol. 106 no. 2, pp. 539-553
مصطلحات موضوعية: AHDS, Allan-Herndon-Dudley syndrome, MCT8, MCT8 deficiency, monocarboxylate transporter 8, thyroid hormone transport
وصف الملف: application/pdf
Relation: https://repub.eur.nl/pub/134564; urn:hdl:1765/134564
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11Academic Journal
المؤلفون: Altmann, V.C., Groen, B.E., Groeneweg, S., Weijde, G. van der, Keijsers, N.L.W.
المصدر: Journal of Sports Sciences, 39, sup1, pp. 91-98
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12Electronic Resource
المؤلفون: Geest, F.S. van, Meima, M.E., Stuurman, K.E., Wolf, N.I., Knaap, M.S. van der, Lorea, C.F., Poswar, F.O., Vairo, F., Brunetti-Pierri, N., Cappuccio, G., Bakhtiani, P., Munnik, S.A. de, Peeters, R.P., Visser, W.E., Groeneweg, S.
المصدر: Journal of Clinical Endocrinology and Metabolism; 539; 53; 0021-972X; 2; vol. 106; ~Journal of Clinical Endocrinology and Metabolism~539~53~~~0021-972X~2~106~~
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13Electronic Resource
المؤلفون: Geest, F.S. (Ferdy) van, Groeneweg, S. (Stefan), Akker, E.L.T. (Erica) van den, Bacos, I. (Iuliu), Barca, D. (Diana), Berg, S.A.A. (Sjoerd) van den, Bertini, E. (Enrico), Brunner, D. (Doris), Brunetti-Pierri, N. (Nicola), Cappa, M. (Marco), Cappuccio, G. (Gerarda), Chatterjee, K. (Krishna), Chesover, A.D. (Alexander), Christian, P. (Peter), Coutant, R. (Régis), Craiu, D. (Dana), Crock, P. (Patricia), Dewey, C. (Cheyenne), Dica, A. (Alice), Dimitri, P. (Paul), Dubey, R. (Rachana), Enderli, A. (Anina), Fairchild, J. (Jan), Gallichan, J. (Jonathan), Garibaldi, L.R. (Luigi), George, B. (Belinda), Hackenberg, A. (Annette), Heinrich, B. (Bianka), Huynh, Tony (T.), Klosowska, A. (Anna), Lawson-Yuen, A. (Amy), Linder-Lucht, M. (Michaela), Lyons, G. (Greta), Monti Lora, F. (Felipe), Moran, C. (Carla), Müller, K. (Katalin), Paone, L. (Laura), Paul, P.G. (Praveen), Polak, M. (Michel), Porta, F. (Francesco), Reinauer, C. (Christina), Rijke, Y.B. (Yolanda) de, Seckold, R. (Rowen), Seven Menevse, T. (Tuba), Simm, P. (Peter), Simon, A. (Anna), Spada, M. (Marco), Stoupa, A. (Athanasia), Szeifert, L. (Lilla), Tonduti, D. (Davide), Toor, H. (Hans) van, Turan, S. (Serap), Vanderniet, J. (Joel), Waart, M. (Monique) de, Wal, R. (Ronald) van der, Walt, A. (Adri) van der, Wermeskerken, A-M. (Anne-Marie) van, Wierzba, J. (Jolanta), Zibordi, F. (Federica), Zung, A. (Amnon), Peeters, R.P. (Robin), Visser, W.E. (Edward)
مصطلحات الفهرس: info:eu-repo/semantics/other
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14Academic Journal
المؤلفون: Groeneweg, S. (Stefan), van den Berge, A.P.J., Lima De Souza, E.C. (Elaine), Meima, M.E. (Marcel), Peeters, R.P. (Robin), Visser, W.E. (Edward)
المصدر: Journal of the Endocrine Society vol. 4 no. 8
مصطلحات موضوعية: AHDS, Dimerization, MCT8, Oligomerization, Thyroid hormone, Thyroid hormone transporter
وصف الملف: application/pdf
Relation: https://repub.eur.nl/pub/130344; urn:hdl:1765/130344
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15Academic Journal
المؤلفون: Groeneweg, S. (Stefan), Geest, F.S. (Ferdy) van, Peeters, R.P. (Robin), Heuer, H. (Heike), Visser, W.E. (Edward)
المصدر: Endocrine Reviews vol. 41 no. 2
مصطلحات موضوعية: AHDS, Allan-Herndon-Dudley syndrome, MCT8, MCT8 deficiency, OATP1C1, thyroid hormone, thyroid hormone transport, thyroid hormone transporters
وصف الملف: application/pdf
Relation: https://repub.eur.nl/pub/124844; urn:hdl:1765/124844
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16Academic Journal
المؤلفون: Geest, F.S. (Ferdy) van, Meima, M.E. (Marcel), Stuurman, K.E. (Kyra), Wolf, N.I. (Nicole), Knaap, M.S. (Marjo) van der, C.F. (Cláudia) Lorea, F.O. (Fabiano) Poswar, F. (Filippo) Vairo, Brunetti-Pierri, N. (Nicola), G. (Gerarda) Cappuccio, P. (Priyanka) Bakhtiani, Munnik, S.A. (Sonja) de, Peeters, R.P. (Robin), Visser, W.E. (Edward), Groeneweg, S. (Stefan)
المصدر: Journal of Clinical Endocrinology and Metabolism vol. forthcoming (submitted)
وصف الملف: application/pdf
Relation: https://repub.eur.nl/pub/126612; urn:hdl:1765/126612
الاتاحة: https://repub.eur.nl/pub/126612
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17Electronic Resource
المؤلفون: Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, 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., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, 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., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, Wesley J.
المصدر: Lancet Diabetes & Endocrinology; 594; 605; 2213-8587; 7; vol. 8; ~Lancet Diabetes & Endocrinology~594~605~~~2213-8587~7~8~~
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18Electronic Resource
المؤلفون: Groeneweg, S. (Stefan)
مصطلحات الفهرس: Thyroid, thyroid hormone, thyroid hormone transporter, Monocarboxylate transporter 8, MCT8, MCT8 deficiency, Allan-Herndon-Dudley syndrome, AHDS, Organic Anion Transporting polypeptide 1C1, OATP1C1, OATP1C1 deficiency, Triac, thyroid hormone analogues, info:eu-repo/semantics/doctoralThesis
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المساهمون: Markus Schuelke, M.D., Prof. Dr. med. Markus Schülke-Gerstenfeld
المصدر: Deep Geno- and Phenotyping of Patients With Thyroid Hormone Resistance, a Register Study.
Wilpert NM, Krueger M, Opitz R, Sebinger D, Paisdzior S, Mages B, Schulz A, Spranger J, Wirth EK, Stachelscheid H, Mergenthaler P, Vajkoczy P, Krude H, Kuhnen P, Bechmann I, Biebermann H. Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression. Thyroid. 2020 Sep;30(9):1366-1383. doi: 10.1089/thy.2019.0544. Epub 2020 Apr 17.
Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet. 2004 Oct 16-22;364(9443):1435-7. doi: 10.1016/S0140-6736(04)17226-7.
Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13.
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