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Ron A. Wevers et al.
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Elise Jeannesson-Thivisol et al.
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Sarah Wettstein et al.
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Molecular genetics and diagnosis of phenylketonuria: state of the art
Nenad Blau et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2014)
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Jerry Vockley et al.
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Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency
Roberto Cerone et al.
ADVANCES IN THERAPY (2013)
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population
Tianwen Zhu et al.
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Stefanie Keil et al.
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Tetrahydrobiopterin: biochemistry and pathophysiology
Ernst R. Werner et al.
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pROC: an open-source package for R and S plus to analyze and compare ROC curves
Xavier Robin et al.
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Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
Steven F. Dobrowolski et al.
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Variations in genotype-phenotype correlations in phenylketonuria patients
L. L. Santos et al.
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Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
Aurora Daniele et al.
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S. F. Dobrowolski et al.
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Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability
Soren W. Gersting et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Marcel R. Zurflueh et al.
HUMAN MUTATION (2008)
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
Dani Bercovich et al.
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Phenylketonuria:: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH
AL Pey et al.
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Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
AC Muntau et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)