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Results: 1 to 20 of 106

1.

Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria.

Jahja R, Huijbregts SC, de Sonneville LM, van der Meere JJ, van Spronsen FJ.

J Pediatr. 2014 Apr;164(4):895-899.e2. doi: 10.1016/j.jpeds.2013.12.015. Epub 2014 Jan 30.

PMID:
24485821
[PubMed - indexed for MEDLINE]
2.

Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients.

Humphrey M, Nation J, Francis I, Boneh A.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):89-92. doi: 10.1016/j.ymgme.2011.05.011. Epub 2011 May 19.

PMID:
21624843
[PubMed - indexed for MEDLINE]
3.

Prefrontal cortex cognitive deficits in children treated early and continuously for PKU.

Diamond A, Prevor MB, Callender G, Druin DP.

Monogr Soc Res Child Dev. 1997;62(4):i-v, 1-208.

PMID:
9421921
[PubMed - indexed for MEDLINE]
4.

Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria.

Huijbregts S, de Sonneville L, Licht R, Sergeant J, van Spronsen F.

Dev Neuropsychol. 2002;22(2):481-99.

PMID:
12537335
[PubMed - indexed for MEDLINE]
5.

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

Jahja R, Huijbregts SC, de Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE, Rubio-Gozalbo ME, Brouwers MC, Hofstede FC, de Vries MC, Janssen MC, van der Ploeg AT, Langendonk JG, van Spronsen FJ.

Mol Genet Metab. 2013;110 Suppl:S57-61. doi: 10.1016/j.ymgme.2013.10.011. Epub 2013 Oct 22.

PMID:
24183792
[PubMed - indexed for MEDLINE]
6.

Stability of blood phenylalanine levels and IQ in children with phenylketonuria.

Anastasoaie V, Kurzius L, Forbes P, Waisbren S.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):17-20. doi: 10.1016/j.ymgme.2008.06.014. Epub 2008 Aug 13.

PMID:
18703366
[PubMed - indexed for MEDLINE]
7.

A preliminary investigation of the role of the phenylalanine:tyrosine ratio in children with early and continuously treated phenylketonuria: toward identification of "safe" levels.

Sharman R, Sullivan K, Young R, McGill J.

Dev Neuropsychol. 2010;35(1):57-65. doi: 10.1080/87565640903325725.

PMID:
20390592
[PubMed - indexed for MEDLINE]
8.

The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.

Schindeler S, Ghosh-Jerath S, Thompson S, Rocca A, Joy P, Kemp A, Rae C, Green K, Wilcken B, Christodoulou J.

Mol Genet Metab. 2007 May;91(1):48-54. Epub 2007 Mar 23.

PMID:
17368065
[PubMed - indexed for MEDLINE]
9.

Evidence for the importance of dopamine for prefrontal cortex functions early in life.

Diamond A.

Philos Trans R Soc Lond B Biol Sci. 1996 Oct 29;351(1346):1483-93; discussion 1494. Review.

PMID:
8941960
[PubMed - indexed for MEDLINE]
10.

Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.

Sharman R, Sullivan KA, Young RM, McGill JJ.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S417-20. doi: 10.1007/s10545-010-9211-6. Epub 2010 Sep 30.

PMID:
20882350
[PubMed - indexed for MEDLINE]
11.

Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations.

Huijbregts SC, de Sonneville LM, Licht R, van Spronsen FJ, Verkerk PH, Sergeant JA.

Neuropsychologia. 2002;40(1):7-15.

PMID:
11595258
[PubMed - indexed for MEDLINE]
12.

The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria.

Elsas LJ, Greto J, Wierenga A.

Mol Genet Metab. 2011 Apr;102(4):407-12. doi: 10.1016/j.ymgme.2010.12.003. Epub 2010 Dec 13.

PMID:
21216643
[PubMed - indexed for MEDLINE]
13.

Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes.

van Rijn M, Hoeksma M, Sauer PJ, Modderman P, Reijngoud DJ, van Spronsen FJ.

Mol Genet Metab. 2011;104 Suppl:S68-72. doi: 10.1016/j.ymgme.2011.08.010. Epub 2011 Aug 16.

PMID:
21982628
[PubMed - indexed for MEDLINE]
14.

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M.

Metabolism. 2010 May;59(5):645-52. doi: 10.1016/j.metabol.2009.09.008. Epub 2009 Nov 14.

PMID:
19913839
[PubMed - indexed for MEDLINE]
15.

Executive functioning in children and adolescents with phenylketonuria.

VanZutphen K, Packman W, Sporri L, Needham M, Morgan C, Weisiger K, Packman S.

Clin Genet. 2007 Jul;72(1):13-8.

PMID:
17594394
[PubMed - indexed for MEDLINE]
16.

Blood-brain phenylalanine relationships in persons with phenylketonuria.

Koch R, Moats R, Guttler F, Guldberg P, Nelson M Jr.

Pediatrics. 2000 Nov;106(5):1093-6.

PMID:
11061780
[PubMed - indexed for MEDLINE]
17.

Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer.

Allard P, Cowell LD, Zytkovicz TH, Korson MS, Ampola MG.

Clin Biochem. 2004 Oct;37(10):857-62.

PMID:
15369715
[PubMed - indexed for MEDLINE]
18.

Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased.

van Spronsen FJ, Reijngoud DJ, Smit GP, Nagel GT, Stellaard F, Berger R, Heymans HS.

J Clin Invest. 1998 Jun 15;101(12):2875-80.

PMID:
9637722
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria.

Schmidt E, Burgard P, Rupp A.

Eur J Pediatr. 1996 Jul;155 Suppl 1:S82-6.

PMID:
8828617
[PubMed - indexed for MEDLINE]
20.

A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum.

Wibrand F.

Clin Chim Acta. 2004 Sep;347(1-2):89-96.

PMID:
15313145
[PubMed - indexed for MEDLINE]

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