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Results: 1 to 20 of 144

Similar articles for PubMed (Select 15303001)

1.

Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria.

Steinfeld R, Kohlschütter A, Ullrich K, Lukacs Z.

J Inherit Metab Dis. 2004;27(4):449-53.

PMID:
15303001
2.

Effect of BH(4) supplementation on phenylalanine tolerance.

Burlina A, Blau N.

J Inherit Metab Dis. 2009 Feb;32(1):40-5. doi: 10.1007/s10545-008-0947-1. Epub 2008 Dec 9.

PMID:
19067227
3.

Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life.

Ziesch B, Weigel J, Thiele A, Mütze U, Rohde C, Ceglarek U, Thiery J, Kiess W, Beblo S.

J Inherit Metab Dis. 2012 Nov;35(6):983-92. doi: 10.1007/s10545-012-9458-1. Epub 2012 Mar 6.

PMID:
22391997
4.

[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test].

Zhang ZX, Ye J, Qiu WJ, Han LS, Gu XF.

Zhonghua Er Ke Za Zhi. 2005 May;43(5):335-9. Chinese.

PMID:
15924746
5.

Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia.

Sanford M, Keating GM.

Drugs. 2009;69(4):461-76. doi: 10.2165/00003495-200969040-00006. Review.

PMID:
19323589
6.

Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria.

Boneh A, Francis DE, Humphrey M, Upton HJ, Peters HL.

J Paediatr Child Health. 2006 Sep;42(9):496-8.

PMID:
16925533
7.

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
8.

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.

Hennermann JB, Bührer C, Blau N, Vetter B, Mönch E.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S86-90. Epub 2005 Jul 26.

PMID:
16051511
9.

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.

10.

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

Steinfeld R, Kohlschütter A, Zschocke J, Lindner M, Ullrich K, Lukacs Z.

Eur J Pediatr. 2002 Jul;161(7):403-5.

PMID:
12174822
11.

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.

Levy H, Burton B, Cederbaum S, Scriver C.

Mol Genet Metab. 2007 Dec;92(4):287-91.

PMID:
18036498
12.

Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.

Fiege B, Blau N.

J Pediatr. 2007 Jun;150(6):627-30.

PMID:
17517248
13.

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
14.

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.

Cleary M, Trefz F, Muntau AC, Feillet F, van Spronsen FJ, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A.

Mol Genet Metab. 2013 Dec;110(4):418-23. doi: 10.1016/j.ymgme.2013.09.001. Epub 2013 Sep 9. Review.

15.
16.

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.

Shintaku H, Kure S, Ohura T, Okano Y, Ohwada M, Sugiyama N, Sakura N, Yoshida I, Yoshino M, Matsubara Y, Suzuki K, Aoki K, Kitagawa T.

Pediatr Res. 2004 Mar;55(3):425-30. Epub 2003 Dec 17.

PMID:
14681498
17.

[Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics].

Bik-Multanowski M, Pietrzyk JJ.

Przegl Lek. 2009;66(1-2):1-3. Polish.

PMID:
19485247
18.

Spotlight on sapropterin in primary hyperphenylalaninemia.

Sanford M, Keating GM.

BioDrugs. 2009;23(3):201-2. doi: 10.2165/00063030-200923030-00007. Review.

PMID:
19627172
19.

Recommendations for the use of sapropterin in phenylketonuria.

Cunningham A, Bausell H, Brown M, Chapman M, DeFouw K, Ernst S, McClure J, McCune H, O'Steen D, Pender A, Skrabal J, Wessel A, Jurecki E, Shediac R, Prasad S, Gillis J, Cederbaum S.

Mol Genet Metab. 2012 Jul;106(3):269-76. doi: 10.1016/j.ymgme.2012.04.004. Epub 2012 Apr 13.

20.

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
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