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The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
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
PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings.
Anjema K, van Rijn M, Verkerk PH, Burgerhof JG, Heiner-Fokkema MR, van Spronsen FJ.
Anjema K, et al.
Mol Genet Metab. 2011 Nov;104(3):231-4. doi: 10.1016/j.ymgme.2011.05.017. Epub 2011 Jun 2.
Mol Genet Metab. 2011.
PMID: 21676636
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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.
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.
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BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.
van Vliet D, Anjema K, Jahja R, de Groot MJ, Liemburg GB, Heiner-Fokkema MR, van der Zee EA, Derks TG, Kema IP, van Spronsen FJ.
van Vliet D, et al. Among authors: anjema k.
Mol Genet Metab. 2015 Jan;114(1):29-33. doi: 10.1016/j.ymgme.2014.11.009. Epub 2014 Nov 15.
Mol Genet Metab. 2015.
PMID: 25466353
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The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
Anjema K, Hofstede FC, Bosch AM, Rubio-Gozalbo ME, de Vries MC, Boelen CC, van Rijn M, van Spronsen FJ.
Anjema K, et al.
Orphanet J Rare Dis. 2016 Jan 29;11:10. doi: 10.1186/s13023-016-0394-2.
Orphanet J Rare Dis. 2016.
PMID: 26822130
Free PMC article.
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The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing.
Evers RAF, van Wegberg AMJ, Anjema K, Lubout CMA, van Dam E, van Vliet D, Blau N, van Spronsen FJ.
Evers RAF, et al. Among authors: anjema k.
J Inherit Metab Dis. 2020 Mar;43(2):244-250. doi: 10.1002/jimd.12173. Epub 2019 Nov 20.
J Inherit Metab Dis. 2020.
PMID: 31503351
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N.
Keil S, et al. Among authors: anjema k.
Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20.
Pediatrics. 2013.
PMID: 23690520
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Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.
Mazzola PN, Bruinenberg V, Anjema K, van Vliet D, Dutra-Filho CS, van Spronsen FJ, van der Zee EA.
Mazzola PN, et al. Among authors: anjema k.
JIMD Rep. 2016;27:69-77. doi: 10.1007/8904_2015_498. Epub 2015 Oct 7.
JIMD Rep. 2016.
PMID: 26440798
Free PMC article.
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