The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

New insights into tetrahydrobiopterin pharmacodynamics from Pahenu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

(2010) Florian B. Lagler et al.   BIOCHEMICAL PHARMACOLOGY

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

Activation of Phenylalanine Hydroxylase Induces Positive Cooperativity toward the Natural Cofactor

(2010) Søren W. Gersting et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria

(2010) Louis J. Elsas et al.   MOLECULAR GENETICS AND METABOLISM

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

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control

(2009) M. Lindner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

(2009) Friedrich K. Trefz et al.   JOURNAL OF PEDIATRICS

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

Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability

(2008) Søren W. Gersting et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

(2008) Phillip Lee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia

(2008) François Feillet et al.   EARLY HUMAN DEVELOPMENT

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU

(2008) Nenad Blau   JOURNAL OF INHERITED METABOLIC DISEASE

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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