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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K, van Rijn M, Hofstede FC, Bosch AM, Hollak CE, Rubio-Gozalbo E, de Vries MC, Janssen MC, Boelen CC, Burgerhof JG, Blau N, Heiner-Fokkema MR, van Spronsen FJ. Anjema K, et al. Among authors: burgerhof jg. Orphanet J Rare Dis. 2013 Jul 10;8:103. doi: 10.1186/1750-1172-8-103. Orphanet J Rare Dis. 2013. PMID: 23842451 Free PMC article. Clinical Trial.
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.
Kienstra NS, van Reemst HE, van Ginkel WG, Daly A, van Dam E, MacDonald A, Burgerhof JGM, de Blaauw P, McKiernan PJ, Heiner-Fokkema MR, van Spronsen FJ. Kienstra NS, et al. J Inherit Metab Dis. 2018 Mar;41(2):181-186. doi: 10.1007/s10545-017-0112-9. Epub 2017 Nov 23. J Inherit Metab Dis. 2018. PMID: 29170874 Free PMC article.
Long-term effects of radioiodine treatment on salivary gland function in adult survivors of pediatric differentiated thyroid carcinoma.
Selvakumar T, Nies M, Klein Hesselink MS, Brouwers AH, van der Horst-Schrivers ANA, Klein Hesselink EN, Tissing WJE, Vissink A, Links TP, Bocca G, Burgerhof JGM, van Dam EWCM, Havekes B, van den Heuvel-Eibrink MM, Corssmit EPM, Kremer LCM, Netea-Maier RT, van der Pal HJH, Peeters RP, Smit JWA, Plukker JTM, Ronckers CM, van Santen HM. Selvakumar T, et al. J Nucl Med. 2018 Nov 30:jnumed.118.212449. doi: 10.2967/jnumed.118.212449. Online ahead of print. J Nucl Med. 2018. PMID: 30504138 Free article.
Psychosocial development in survivors of childhood differentiated thyroid carcinoma: a cross-sectional study.
Nies M, Dekker BL, Sulkers E, Huizinga GA, Klein Hesselink MS, Maurice-Stam H, Grootenhuis MA, Brouwers AH, Burgerhof JGM, van Dam EWCM, Havekes B, van den Heuvel-Eibrink MM, Corssmit EPM, Kremer LCM, Netea-Maier RT, van der Pal HJH, Peeters RP, Plukker JTM, Ronckers CM, van Santen HM, van der Horst-Schrivers ANA, Tissing WJE, Bocca G, Links TP. Nies M, et al. Eur J Endocrinol. 2018 Mar;178(3):215-223. doi: 10.1530/EJE-17-0741. Epub 2017 Dec 18. Eur J Endocrinol. 2018. PMID: 29254931 Free PMC article.
149 results