Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://www.nature.com/articles/pr2015167.pdf
Reference36 articles.
1. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010;376:1417–27.
2. Shi XT, Cai J, Wang YY, et al. Newborn screening for inborn errors of metabolism in mainland china: 30 years of experience. JIMD Rep 2012;6:79–83.
3. Levy HL, Milanowski A, Chakrapani A, et al.; Sapropterin Research Group. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 2007;370:504–10.
4. Trefz FK, Burton BK, Longo N, et al.; Sapropterin Study Group. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr 2009;154:700–7.
5. Keil S, Anjema K, van Spronsen FJ, et al. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics 2013;131:e1881–8.
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2. Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening;Journal of Zhejiang University (Medical Sciences);2023-12-01
3. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy;Molecular Genetics and Metabolism;2023-11
4. Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population;Clinica Chimica Acta;2022-10
5. Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes;European Journal of Medical Genetics;2022-09
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