Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference39 articles.
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2. A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population;Bercovich;Ann. Hum. Genet.,2008
3. Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene;Berchovich;J. Hum. Genet.,2008
4. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency;Blau;Mol. Genet. Metab.,2004
5. Optimizing the use of sapropterin (BH4) in the management of phenylketonuria;Blau;Mol. Genet. Metab.,2009
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1. Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia;Genetic Testing and Molecular Biomarkers;2023-05-01
2. The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review;Journal of Pediatrics Review;2021-04-01
3. Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review;Metabolic Brain Disease;2021-02-24
4. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province;Brain and Development;2021-02
5. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China;BMC Medical Genetics;2017-10-05
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