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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S. Barendsen RW, et al. Among authors: boelen a. Front Cell Dev Biol. 2020 Jun 17;8:499. doi: 10.3389/fcell.2020.00499. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32626714 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. Among authors: boelen a. 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.
Effects of intravenous thyrotropin-releasing hormone on 18F-fluorodeoxyglucose uptake in human brown adipose tissue: a randomized controlled trial.
Heinen CA, Zhang Z, Klieverik LP, de Wit TC, Poel E, Yaqub M, Boelen A, Kalsbeek A, Bisschop PH, van Trotsenburg ASP, Verberne HJ, Booij J, Fliers E. Heinen CA, et al. Among authors: boelen a. Eur J Endocrinol. 2018 Jul;179(1):31-38. doi: 10.1530/EJE-17-0966. Epub 2018 May 3. Eur J Endocrinol. 2018. PMID: 29724865 Clinical Trial.
Mutations in IRS4 are associated with central hypothyroidism.
Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E. Heinen CA, et al. Among authors: boelen a. J Med Genet. 2018 Oct;55(10):693-700. doi: 10.1136/jmedgenet-2017-105113. Epub 2018 Jul 30. J Med Genet. 2018. PMID: 30061370 Free PMC article.
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
Stroek K, Boelen A, Bouva MJ, De Sain-van der Velden M, Schielen PCJI, Maase R, Engel H, Jakobs B, Kluijtmans LAJ, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, Visser G, de Vries MC, Williams M, Heijboer AC, Kemper EA, Bosch AM. Stroek K, et al. Among authors: boelen a. JIMD Rep. 2020 May 13;54(1):68-78. doi: 10.1002/jmd2.12124. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685353 Free PMC article.
173 results