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The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background.
Bruinenberg VM, van der Goot E, van Vliet D, de Groot MJ, Mazzola PN, Heiner-Fokkema MR, van Faassen M, van Spronsen FJ, van der Zee EA. Bruinenberg VM, et al. Among authors: van der goot e, van vliet d, van faassen m, van der zee ea, van spronsen fj. Front Behav Neurosci. 2016 Dec 20;10:233. doi: 10.3389/fnbeh.2016.00233. eCollection 2016. Front Behav Neurosci. 2016. PMID: 28066199 Free PMC article.
Animal models of brain dysfunction in phenylketonuria.
Martynyuk AE, van Spronsen FJ, Van der Zee EA. Martynyuk AE, et al. Among authors: van der zee ea, van spronsen fj. Mol Genet Metab. 2010;99 Suppl 1:S100-5. doi: 10.1016/j.ymgme.2009.10.181. Mol Genet Metab. 2010. PMID: 20123463
Large neutral amino acids in the treatment of PKU: from theory to practice.
van Spronsen FJ, de Groot MJ, Hoeksma M, Reijngoud DJ, van Rijn M. van Spronsen FJ, et al. Among authors: van rijn m. J Inherit Metab Dis. 2010 Dec;33(6):671-6. doi: 10.1007/s10545-010-9216-1. Epub 2010 Oct 26. J Inherit Metab Dis. 2010. PMID: 20976625 Free PMC article. Review.
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
Anjema K, Venema G, Hofstede FC, Carbasius Weber EC, Bosch AM, Ter Horst NM, Hollak CE, Jonkers CF, Rubio-Gozalbo ME, van der Ploeg EM, de Vries MC, Janssen-Regelink RG, Janssen MC, Zweers-van Essen H, Boelen CC, van der Herberg-van de Wetering NA, Heiner-Fokkema MR, van Rijn M, van Spronsen FJ. Anjema K, et al. Among authors: van der ploeg em, van der herberg van de wetering na, van rijn m, van spronsen fj. Mol Genet Metab. 2011;104 Suppl:S60-3. doi: 10.1016/j.ymgme.2011.09.024. Epub 2011 Sep 23. Mol Genet Metab. 2011. PMID: 21996137
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: van rijn m, van spronsen fj. 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.
250 results