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Publikationer i urvalet

24 träffar

Bibliografisk träff 2013-06-06

Oral sapropterin acutely augments reflex vasodilation in aged human skin through nitric oxide-dependent mechanisms.

Stanhewicz AE, Alexander LM, Kenney WL.

J Appl Physiol (1985) · research-article; randomized controlled trial; journal article; research support, n.i.h., extramural · DOI 10.1152/japplphysiol.00481.2013

Bibliografisk träff 2013-05-27

Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias.

Blau N.

Expert Opin Drug Metab Toxicol · research support, non-u.s. gov't; review; journal article · DOI 10.1517/17425255.2013.804064

Bibliografisk träff 2013-05-20

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 · research support, non-u.s. gov't; multicenter study; journal article · DOI 10.1542/peds.2012-3291

Bibliografisk träff 2013-05-01

The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.

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

Mol Genet Metab · journal article · DOI 10.1016/j.ymgme.2013.04.017

Bibliografisk träff 2013-03-05

Metabolic effects of sapropterin treatment in autism spectrum disorder: a preliminary study.

Frye RE, DeLatorre R, Taylor HB, Slattery J, Melnyk S, Chowdhury N, James SJ.

Transl Psychiatry · research support, non-u.s. gov't; research-article; journal article · DOI 10.1038/tp.2013.14

Bibliografisk träff 2013-02-20

Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.

Cerone R, Andria G, Giovannini M, Leuzzi V, Riva E, Burlina A.

Adv Ther · research support, non-u.s. gov't; review; journal article · DOI 10.1007/s12325-013-0011-x

Bibliografisk träff 2012-12-12

Sapropterin dihydrochloride for phenylketonuria.

Somaraju UR, Merrin M.

Cochrane Database Syst Rev · meta-analysis; systematic review; journal article · DOI 10.1002/14651858.cd008005.pub3

Bibliografisk träff 2012-11-28

Use of sapropterin in the management of phenylketonuria: seven case reports.

Gokmen Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K.

Mol Genet Metab · research support, non-u.s. gov't; journal article; case reports · DOI 10.1016/j.ymgme.2012.11.012

Bibliografisk träff 2012-10-17

Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)).

Thiele AG, Weigel JF, Ziesch B, Rohde C, Mütze U, Ceglarek U, Thiery J, Müller AS, Kiess W, Beblo S.

JIMD Rep · research-article; journal article · DOI 10.1007/8904_2012_176

Bibliografisk träff 2012-07-29

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.

Lindegren ML, Krishnaswami S, Reimschisel T, Fonnesbeck C, Sathe NA, McPheeters ML.

JIMD Rep · research-article; journal article · DOI 10.1007/8904_2012_168

Bibliografisk träff 2012-07-24

Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan.

Shintaku H, Ohwada M.

Brain Dev · multicenter study; journal article · DOI 10.1016/j.braindev.2012.06.010

Bibliografisk träff 2012-04-13

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 · clinical trial; journal article · DOI 10.1016/j.ymgme.2012.04.004

Bibliografisk träff 2012-03-06

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 · clinical trial; research support, non-u.s. gov't; journal article · DOI 10.1007/s10545-012-9458-1

Bibliografisk träff 2012-03-03

Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.

Leuret O, Barth M, Kuster A, Eyer D, de Parscau L, Odent S, Gilbert-Dussardier B, Feillet F, Labarthe F.

J Inherit Metab Dis · multicenter study; journal article · DOI 10.1007/s10545-012-9464-3

Bibliografisk träff 2012-01-08

Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients.

Gordon P, Thomas JA, Suter R, Jurecki E.

Mol Genet Metab · research support, non-u.s. gov't; journal article · DOI 10.1016/j.ymgme.2011.12.023

Bibliografisk träff 2011-10-29

START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.

Utz JR, Lorentz CP, Markowitz D, Rudser KD, Diethelm-Okita B, Erickson D, Whitley CB.

Mol Genet Metab · randomized controlled trial; journal article · DOI 10.1016/j.ymgme.2011.10.014

Bibliografisk träff 2011-07-01

Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?

MacDonald A, Ahring K, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Bélanger-Quintana A.

Br J Nutr · research support, non-u.s. gov't; review; journal article · DOI 10.1017/s0007114511000298

Bibliografisk träff 2011-06-30

Erratum: GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour.

Pan L, McKain BW, Madan-Khetarpal S, McGuire M, Diler RS, Perel JM, Vockley J, Brent DA.

BMJ Case Rep · published erratum; correction; journal article · DOI 10.1136/bcr.03.2011.3927.corr1

Bibliografisk träff 2011-03-31

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 · clinical trial, phase iii; research support, non-u.s. gov't; multicenter study; journal article · DOI 10.1016/j.ymgme.2011.03.020

Bibliografisk träff 2009-01-01

Spotlight on sapropterin in primary hyperphenylalaninemia.

Sanford M, Keating GM.

BioDrugs · review; journal article · DOI 10.2165/00063030-200923030-00007

Bibliografisk träff 2005-01-20

Expression, purification, crystallization and preliminary X-ray analysis of sepiapterin reductase from Chlorobium tepidum.

Supangat S, Choi YK, Park YS, Son D, Han CD, Lee KH.

Acta Crystallogr Sect F Struct Biol Cryst Commun · research support, non-u.s. gov't; research-article; journal article · DOI 10.1107/s174430910403444x

Bibliografisk träff 1999-06-01

Sepiapterin reductase producing L-threo-dihydrobiopterin from Chlorobium tepidum.

Cho SH, Na JU, Youn H, Hwang CS, Lee CH, Kang SO.

Biochem J · research support, non-u.s. gov't; research-article; journal article · DOI 10.1042/bj3400497

Bibliografisk träff 1992-01-01

Biopterin-responsive hyperphenylalaninemia.

Kaufman S.

J Nutr Sci Vitaminol (Tokyo) · review; journal article · DOI 10.3177/jnsv.38.special_601

Bibliografisk träff 1985-05-01

6R-L-erythro-5,6,7,8-tetrahydrobiopterin as a regulator of dopamine and serotonin biosynthesis in the rat brain.

Miwa S, Watanabe Y, Hayaishi O.

Arch Biochem Biophys · research support, non-u.s. gov't; journal article · DOI 10.1016/0003-9861(85)90831-8