Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness-Reference-Cited by-同舟云学术

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

Published:2015-12 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Jeannesson-Thivisol Elise,Feillet François,Chéry Céline,Perrin Pascal,Battaglia-Hsu Shyue-Fang,Herbeth Bernard,Cano Aline,Barth Magalie,Fouilhoux Alain,Mention Karine,Labarthe François,Arnoux Jean-Baptiste,Maillot François,Lenaerts Catherine,Dumesnil Cécile,Wagner Kathy,Terral Daniel,Broué Pierre,de Parscau Loïc,Gay Claire,Kuster Alice,Bédu Antoine,Besson Gérard,Lamireau Delphine,Odent Sylvie,Masurel Alice,Guéant Jean-Louis,Namour Fares

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0375-x

Reference36 articles.

1. Scriver CR. The PAH, gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007;28(9):831–45.

2. Blau NY and Yue W. BioPKU database. http://www.biopku.org .

3. Guldberg P, Rey F, Zschocke J, Romano V, Francois B, Michiels L, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet. 1998;63(1):71–9.

4. Heintz C, Cotton RG, Blau N. Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum Mutat. 2013;34(7):927–36.

5. Feillet F, van Spronsen FJ, MacDonald A, Trefz FK, Demirkol M, Giovannini M, et al. Challenges and pitfalls in the management of phenylketonuria. Pediatrics. 2010;126(2):333–41.

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