يعرض 1 - 20 نتائج من 648 نتيجة بحث عن '"Groeneweg S."', وقت الاستعلام: 0.92s تنقيح النتائج
  1. 1
  2. 2
    Academic Journal

    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

  3. 3
    Academic Journal

    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

  4. 4
  5. 5
    Academic Journal

    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

  6. 6
    Academic 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

    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

  7. 7
  8. 8
    Academic Journal
  9. 9
    Report

    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.

  10. 10
    Academic Journal
  11. 11
    Academic Journal
  12. 12
    Electronic Resource

    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~~

  13. 13
    Electronic Resource

    مصطلحات الفهرس: info:eu-repo/semantics/other

  14. 14
    Academic Journal
  15. 15
    Academic Journal
  16. 16
    Academic Journal
  17. 17
    Electronic Resource

    المصدر: Lancet Diabetes & Endocrinology; 594; 605; 2213-8587; 7; vol. 8; ~Lancet Diabetes & Endocrinology~594~605~~~2213-8587~7~8~~

  18. 18
    Electronic Resource
  19. 19
    Report

    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.
    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.
    Groeneweg S, van Geest FS, Abaci 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, Halasz Z, Heinrich B, Huynh T, Klosowska 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, Lourenco CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Muller 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, Wemeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Erratum In: Lancet Diabetes Endocrinol. 2022 Apr;10(4):e7. doi: 10.1016/S2213-8587(22)00082-1.
    Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S. MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol. 2013 Jun;28(6):795-800. doi: 10.1177/0883073812450944. Epub 2012 Jul 17.
    Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D. Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome. Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16.
    Wilpert NM, Tonduti D, Vaia Y, Krude H, Sarret C, Schuelke M. Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review. Neuropsychiatr Dis Treat. 2023 Oct 20;19:2195-2216. doi: 10.2147/NDT.S379703. eCollection 2023.

  20. 20
    Academic Journal

    المؤلفون: Bauer, Andrew

    المصدر: Clinical Thyroidology; Jan2025, Vol. 37 Issue 1, p10-13, 4p