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Page 1
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
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 JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Complications After Thyroidectomy in Children: Lymph Node Dissection Is a Risk Factor for Permanent Hypocalcemia.
van Rooijen JJ, van Trotsenburg ASP, van de Berg DJ, Zwaveling-Soonawala N, Nieveen van Dijkum EJM, Engelsman AF, Derikx JPM, Mooij CF. van Rooijen JJ, et al. Front Endocrinol (Lausanne). 2021 Sep 29;12:717769. doi: 10.3389/fendo.2021.717769. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34659111 Free PMC article. Clinical Trial.
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group. Joustra SD, et al. J Clin Endocrinol Metab. 2016 Apr;101(4):1627-36. doi: 10.1210/jc.2015-3880. Epub 2016 Feb 3. J Clin Endocrinol Metab. 2016. PMID: 26840047 Free PMC article.
Mutations in TBL1X Are Associated With Central Hypothyroidism.
Heinen CA, Losekoot M, Sun Y, Watson PJ, Fairall L, Joustra SD, Zwaveling-Soonawala N, Oostdijk W, van den Akker EL, Alders M, Santen GW, van Rijn RR, Dreschler WA, Surovtseva OV, Biermasz NR, Hennekam RC, Wit JM, Schwabe JW, Boelen A, Fliers E, van Trotsenburg AS. Heinen CA, et al. J Clin Endocrinol Metab. 2016 Dec;101(12):4564-4573. doi: 10.1210/jc.2016-2531. Epub 2016 Sep 7. J Clin Endocrinol Metab. 2016. PMID: 27603907 Free PMC article.
Early thyroxine treatment in Down syndrome and thyroid function later in life.
Zwaveling-Soonawala N, Witteveen ME, Marchal JP, Klouwer FCC, Ikelaar NA, Smets AMJB, van Rijn RR, Endert E, Fliers E, van Trotsenburg ASP. Zwaveling-Soonawala N, et al. Eur J Endocrinol. 2017 May;176(5):505-513. doi: 10.1530/EJE-16-0858. Epub 2017 Jan 30. Eur J Endocrinol. 2017. PMID: 28137734 Clinical Trial.
56 results