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Items: 1 to 20 of 128

1.

The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands.

Eijgelshoven I, Demirdas S, Smith TA, van Loon JM, Latour S, Bosch AM.

Mol Genet Metab. 2013 Jul;109(3):237-42. doi: 10.1016/j.ymgme.2013.05.003. Epub 2013 May 10.

2.

The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK.

MacDonald A, Smith TA, de Silva S, Alam V, van Loon JM.

Mol Genet Metab Rep. 2016 Aug 28;9:1-5. doi: 10.1016/j.ymgmr.2016.08.008. eCollection 2016 Dec.

3.

Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study.

Wang L, Zou H, Ye F, Wang K, Li X, Chen Z, Chen J, Han B, Yu W, He C, Shen M.

J Inherit Metab Dis. 2017 May;40(3):369-376. doi: 10.1007/s10545-016-9995-0. Epub 2016 Nov 10.

4.

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.

Ten Hoedt AE, Hollak CE, Boelen CC, van der Herberg-van de Wetering NA, Ter Horst NM, Jonkers CF, Wijburg FA, Bosch AM.

Orphanet J Rare Dis. 2011 Jun 27;6:48. doi: 10.1186/1750-1172-6-48.

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
6.

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.

Giżewska M, MacDonald A, Bélanger-Quintana A, Burlina A, Cleary M, Coşkun T, Feillet F, Muntau AC, Trefz FK, van Spronsen FJ, Blau N.

Eur J Pediatr. 2016 Feb;175(2):261-72. doi: 10.1007/s00431-015-2622-5. Epub 2015 Sep 8.

7.

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.

Mol Genet Metab. 2013;110 Suppl:S49-56. doi: 10.1016/j.ymgme.2013.09.015. Epub 2013 Sep 25.

PMID:
24100246
8.

Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.

Jurecki E, Cunningham A, Birardi V, Gagol G, Acquadro C.

Health Qual Life Outcomes. 2017 Mar 9;15(1):46. doi: 10.1186/s12955-017-0620-1.

9.

The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.

Douglas TD, Jinnah HA, Bernhard D, Singh RH.

Mol Genet Metab. 2013 Jul;109(3):243-50. doi: 10.1016/j.ymgme.2013.04.017. Epub 2013 May 1.

PMID:
23712020
10.

The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S.

Mol Genet Metab. 2015 Dec;116(4):242-51. doi: 10.1016/j.ymgme.2015.10.001. Epub 2015 Oct 9.

PMID:
26498184
11.

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
12.

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries.

Bosch AM, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Koledova E, Benmedjahed K, Regnault A.

Orphanet J Rare Dis. 2015 Jun 18;10:80. doi: 10.1186/s13023-015-0294-x.

13.

Outcomes beyond phenylalanine: an international perspective.

Feillet F, MacDonald A, Hartung Perron D, Burton B.

Mol Genet Metab. 2010;99 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2009.09.015. Review.

PMID:
20123476
14.

Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine-restricted diet.

Guest JF, Bai JJ, Taylor RR, Sladkevicius E, Lee PJ, Lachmann RH.

J Intellect Disabil Res. 2013 Jun;57(6):567-79. doi: 10.1111/j.1365-2788.2012.01568.x. Epub 2012 May 8.

PMID:
22563770
15.

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.

Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20.

16.

Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients.

de Groot MJ, Hoeksma M, van Rijn M, Slart RH, van Spronsen FJ.

Mol Genet Metab. 2012 Apr;105(4):566-70. doi: 10.1016/j.ymgme.2012.01.006. Epub 2012 Jan 16.

PMID:
22300845
17.

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
18.

Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.

Trefz FK, Blau N.

Pediatrics. 2003 Dec;112(6 Pt 2):1566-9.

PMID:
14654666
19.

[The maternal phenylketonuria syndrom--still current problem].

Didycz B, Domagała L, Pietrzyk JJ.

Przegl Lek. 2009;66(1-2):4-10. Polish.

PMID:
19485248
20.

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study.

Burton BK, Nowacka M, Hennermann JB, Lipson M, Grange DK, Chakrapani A, Trefz F, Dorenbaum A, Imperiale M, Kim SS, Fernhoff PM.

Mol Genet Metab. 2011 Aug;103(4):315-22. doi: 10.1016/j.ymgme.2011.03.020. Epub 2011 Mar 31.

PMID:
21646032

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