Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients-Reference-Cited by-同舟云学术

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

Published:2012-04-25 Issue:1 Volume:36 Page:7-13
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sterl Elisabeth,Paul Karl,Paschke Eduard,Zschocke Johannes,Brunner-Krainz Michaela,Windisch Eva,Konstantopoulou Vassiliki,Möslinger Dorothea,Karall Daniela,Scholl-Bürgi Sabine,Sperl Wolfgang,Lagler Florian,Plecko Barbara

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-012-9485-y

Reference42 articles.

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2. Bernegger C, Blau N (2002) High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol Genet Metab 77(4):304–313

3. Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82(2):101–111

4. Blau N, Belanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ (2009) Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab 96(4):158–163

5. Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L (2010) Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem 43(1–2):76–81

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3. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China;Scandinavian Journal of Clinical and Laboratory Investigation;2018-02-01

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