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Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.
Demirdas S, Maurice-Stam H, Boelen CC, Hofstede FC, Janssen MC, Langendonk JG, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, de Vries M, Grootenhuis MA, Bosch AM. Demirdas S, et al. Among authors: van spronsen fj. Mol Genet Metab. 2013;110 Suppl:S49-56. doi: 10.1016/j.ymgme.2013.09.015. Epub 2013 Sep 25. Mol Genet Metab. 2013. PMID: 24100246
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria.
Hoeksma M, Van Rijn M, Verkerk PH, Bosch AM, Mulder MF, de Klerk JB, de Koning TJ, Rubio-Gozalbo E, de Vries M, Sauer PJ, van Spronsen FJ. Hoeksma M, et al. Among authors: van rijn m, van spronsen fj. J Inherit Metab Dis. 2005;28(6):845-54. doi: 10.1007/s10545-005-0122-x. J Inherit Metab Dis. 2005. PMID: 16435176
A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake.
van Rijn M, Jansma J, Brinksma A, Bakker HD, Boers GH, Carbasius-Weber E, Douwes AC, van den Herberg A, Ter Horst NM, de Klerk JB, de Koning TJ, van den Ploeg L, Rubio-Gozalbo ME, Sels JP, Sengers RC, de Valk HW, Termeulen H, Zweers H, van Spronsen FJ. van Rijn M, et al. Among authors: van den ploeg l, van spronsen fj, van den herberg a. J Am Diet Assoc. 2008 Oct;108(10):1704-7. doi: 10.1016/j.jada.2008.07.008. J Am Diet Assoc. 2008. PMID: 18926138
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ. Blau N, et al. Among authors: van spronsen fj. Mol Genet Metab. 2009 Apr;96(4):158-63. doi: 10.1016/j.ymgme.2009.01.002. Epub 2009 Feb 8. Mol Genet Metab. 2009. PMID: 19208488 Review.
Management of phenylketonuria in Europe: survey results from 19 countries.
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826
249 results