Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

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

(2012) Elisabeth Sterl et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria

(2012) Oriane Leuret et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life

(2012) B. Ziesch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term treatment with tetrahydrobiopterin in phenylketonuria: Treatment strategies and prediction of long-term responders

(2012) Julia B. Hennermann et al.   MOLECULAR GENETICS AND METABOLISM

Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria

(2011) Rani H. Singh et al.   MOLECULAR GENETICS AND METABOLISM

START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients

(2011) Jeanine R. Jarnes Utz et al.   MOLECULAR GENETICS AND METABOLISM

Pah enu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

(2010) Søren W. Gersting et al.   HUMAN MOLECULAR GENETICS

Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation

(2010) Jytte Bieber Nielsen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

(2010) Steven F. Dobrowolski et al.   MOLECULAR GENETICS AND METABOLISM

Phenylketonuria: a 21st century perspective

(2010) Francjan J. van Spronsen   Nature Reviews Endocrinology

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

(2009) Iva Karačić et al.   MOLECULAR GENETICS AND METABOLISM

Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

(2009) Nenad Blau et al.   MOLECULAR GENETICS AND METABOLISM

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

(2008) S. F. Dobrowolski et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria

(2008) F. K. Trefz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Effect of BH4 supplementation on phenylalanine tolerance

(2008) A. Burlina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

(2007) Marcel R. Zurflüh et al.   HUMAN MUTATION