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Results: 1 to 20 of 31

1.

Melatonin and dopamine as biomarkers to optimize treatment in phenylketonuria: effects of tryptophan and tyrosine supplementation.

Yano S, Moseley K, Azen C.

J Pediatr. 2014 Jul;165(1):184-189.e1. doi: 10.1016/j.jpeds.2014.03.061. Epub 2014 May 22.

PMID:
24857519
[PubMed - indexed for MEDLINE]
2.

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.

Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S.

Lancet. 2014 Jul 5;384(9937):37-44. doi: 10.1016/S0140-6736(13)61841-3. Epub 2014 Apr 14.

PMID:
24743000
[PubMed - indexed for MEDLINE]
3.

Recombinant phenylalanine ammonia lyase in phenylketonuria.

van Spronsen FJ, Derks TG.

Lancet. 2014 Jul 5;384(9937):6-8. doi: 10.1016/S0140-6736(13)62075-9. Epub 2014 Apr 14. No abstract available.

PMID:
24742999
[PubMed - indexed for MEDLINE]
4.

Heat-transfer-based detection of SNPs in the PAH gene of PKU patients.

Vanden Bon N, van Grinsven B, Murib MS, Yeap WS, Haenen K, De Ceuninck W, Wagner P, Ameloot M, Vermeeren V, Michiels L.

Int J Nanomedicine. 2014 Mar 27;9:1629-40. doi: 10.2147/IJN.S58692. eCollection 2014.

PMID:
24741310
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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]
6.

Therapeutic implication of L-phenylalanine aggregation mechanism and its modulation by D-phenylalanine in phenylketonuria.

Singh V, Rai RK, Arora A, Sinha N, Thakur AK.

Sci Rep. 2014 Jan 27;4:3875. doi: 10.1038/srep03875.

PMID:
24464217
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride.

Douglas TD, Ramakrishnan U, Kable JA, Singh RH.

Health Qual Life Outcomes. 2013 Dec 30;11:218. doi: 10.1186/1477-7525-11-218.

PMID:
24373161
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.

Bik-Multanowski M, Kaluzny L, Mozrzymas R, Oltarzewski M, Starostecka E, Lange A, Didycz B, Gizewska M, Ulewicz-Filipowicz J, Chrobot A, Mikoluc B, Szymczakiewicz-Multanowska A, Cichy W, Pietrzyk JJ.

Acta Biochim Pol. 2013;60(4):613-6. Epub 2013 Dec 17.

PMID:
24350308
[PubMed - indexed for MEDLINE]
Free Article
9.

Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.

Hagedorn TS, van Berkel P, Hammerschmidt G, Lhotáková M, Saludes RP.

Orphanet J Rare Dis. 2013 Dec 17;8:191. doi: 10.1186/1750-1172-8-191.

PMID:
24341788
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Phenylketonuria is not a risk factor for gut mucosa inflammation: a preliminary observation.

Walkowiak J, Cofta S, Mozrzymas R, Siwinska-Mrozek Z, Nowak J, Kaluzny L, Banasiewicz T.

Eur Rev Med Pharmacol Sci. 2013 Nov;17(22):3056-9.

PMID:
24302186
[PubMed - indexed for MEDLINE]
Free Article
11.

Phenylketonuria: protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine.

Pimentel FB, Alves RC, Costa AS, Torres D, Almeida MF, Oliveira MB.

Food Chem. 2014 Apr 15;149:144-50. doi: 10.1016/j.foodchem.2013.10.099. Epub 2013 Oct 31.

PMID:
24295688
[PubMed - indexed for MEDLINE]
12.

The political history of PKU: reflections on 50 years of newborn screening.

Brosco JP, Paul DB.

Pediatrics. 2013 Dec;132(6):987-9. doi: 10.1542/peds.2013-1441. Epub 2013 Nov 25. No abstract available.

PMID:
24276841
[PubMed - indexed for MEDLINE]
13.

PKU patients on a relaxed diet may be at risk for micronutrient deficiencies.

Rohde C, von Teeffelen-Heithoff A, Thiele AG, Arelin M, Mütze U, Kiener C, Gerloff J, Baerwald C, Schultz S, Heller C, Müller AS, Kiess W, Beblo S.

Eur J Clin Nutr. 2014 Jan;68(1):119-24. doi: 10.1038/ejcn.2013.218. Epub 2013 Nov 20.

PMID:
24253763
[PubMed - indexed for MEDLINE]
14.

Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria.

Huijbregts SC, Gassió R, Campistol J.

Mol Genet Metab. 2013;110 Suppl:S25-30. doi: 10.1016/j.ymgme.2013.10.001. Epub 2013 Oct 10. Review.

PMID:
24206933
[PubMed - indexed for MEDLINE]
15.

Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study.

Pode-Shakked B, Shemer-Meiri L, Harmelin A, Stettner N, Brenner O, Abraham S, Schwartz G, Anikster Y.

Mol Genet Metab. 2013;110 Suppl:S66-70. doi: 10.1016/j.ymgme.2013.10.006. Epub 2013 Oct 12.

PMID:
24206931
[PubMed - indexed for MEDLINE]
16.

Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria.

Li L, Jin C, Ye L, Shao G, Wang L, Lin M.

Clin Biochem. 2013 Dec;46(18):1793-7. doi: 10.1016/j.clinbiochem.2013.10.028. Epub 2013 Nov 2.

PMID:
24192130
[PubMed - indexed for MEDLINE]
17.

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]
18.

Early dietary treated patients with phenylketonuria can achieve normal growth and body composition.

Rocha JC, van Spronsen FJ, Almeida MF, Ramos E, Guimarães JT, Borges N.

Mol Genet Metab. 2013;110 Suppl:S40-3. doi: 10.1016/j.ymgme.2013.10.009. Epub 2013 Oct 22.

PMID:
24183791
[PubMed - indexed for MEDLINE]
19.

A comparison of phenylketonuria with attention deficit hyperactivity disorder: do markedly different aetiologies deliver common phenotypes?

Stevenson M, McNaughton N.

Brain Res Bull. 2013 Oct;99:63-83. doi: 10.1016/j.brainresbull.2013.10.003. Epub 2013 Oct 16. Review.

PMID:
24140048
[PubMed - indexed for MEDLINE]
20.

Advances in the nutritional and pharmacological management of phenylketonuria.

Ney DM, Blank RD, Hansen KE.

Curr Opin Clin Nutr Metab Care. 2014 Jan;17(1):61-8. doi: 10.1097/MCO.0000000000000002. Review.

PMID:
24136088
[PubMed - indexed for MEDLINE]

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