Defining tetrahydrobiopterin (BH4)-responsiveness in PKU-Reference-Cited by-同舟云学术

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU

Published:2008-02 Issue:1 Volume:31 Page:2-3
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Blau Nenad

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-007-9979-1

Reference4 articles.

1. Burnett JR (2007) Sapropterin dihydrochloride (Kuvan/Phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. IDrugs 10(11): 805–813.

2. Fiege B, Blau N (2007) Assessment of tetrahydrobiopterin (BH4)-responsiveness in phenylketonuria. J Pediatr 150: 627–630.

3. Levy L, Milanowski A, Chakrapani A, et al (2007) Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomized placebo-controlled study. Lancet 370: 504–510.

4. Zurflüh MR, Zschocke J, Lindner M, et al (2008) Molecular genetics of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency. Hum Mutat 29(1): 167–175

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