Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference21 articles.
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2. How practical are recommendations for dietary control in phenylketonuria?;Walter;Lancet,2002
3. Psychiatric symptoms and disorders in phenylketonuria;Brumm;Mol. Genet. Metab.,2010
4. Behavior disturbance in 8-year-old children with early treated phenylketonuria. Report from the MRC/DHSS Phenylketonuria Register;Smith;J. Pediatr.,1988
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1. 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
2. Genetic etiology and clinical challenges of phenylketonuria;Human Genomics;2022-07-19
3. The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review;Journal of Pediatrics Review;2021-04-01
4. Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial;Journal of Pediatric Endocrinology and Metabolism;2019-08-27
5. Bioanalysis of tetrahydrobiopterin with liquid chromatographic-mass spectrometric and its application for pharmacokinetics in apolipoprotein E knockout mice;Journal of Liquid Chromatography & Related Technologies;2019-06-19
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