Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency

ACOG Committee Opinion No. 449: Maternal Phenylketonuria

(2014)   OBSTETRICS AND GYNECOLOGY

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

New evidence for assessing tetrahydrobiopterin (BH4) responsiveness

(2012) María A. Bueno et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients

(2012) Patricia Gordon et al.   MOLECULAR GENETICS AND METABOLISM

Recommendations for the use of sapropterin in phenylketonuria

(2012) Amy Cunningham et al.   MOLECULAR GENETICS AND METABOLISM

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases

(2012) Chiara Cazzorla et al.   MOLECULAR GENETICS AND METABOLISM

Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies

(2011) Babette W Prick et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Mild hyperphenylalaninemia: to treat or not to treat

(2011) Francjan J. van Spronsen   JOURNAL OF INHERITED METABOLIC DISEASE

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

Non-PKU mild hyperphenylalaninemia (MHP) — The dilemma

(2011) W.B. Hanley   MOLECULAR GENETICS AND METABOLISM

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration

(2011) K. Anjema et al.   MOLECULAR GENETICS AND METABOLISM

Up to date knowledge on different treatment strategies for phenylketonuria

(2011) Amaya Bélanger-Quintana et al.   MOLECULAR GENETICS AND METABOLISM

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

(2011) Nenad Blau 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

Impact of Neonatal Protein Metabolism and Nutrition on Screening for Phenylketonuria

(2010) Alberto Ponzone et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Tetrahydrobiopterin Therapy for Phenylketonuria in Infants and Young Children

(2010) Barbara K. Burton et al.   JOURNAL OF PEDIATRICS

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria

(2010) H.J. Vernon et al.   MOLECULAR GENETICS AND METABOLISM

Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence

(2010) G.M. Enns 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

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

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

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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