Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Development of clinical guidelines for inborn errors of metabolism: Commentary

(2013) Jerry Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan

(2012) Haruo Shintaku et al.   BRAIN & DEVELOPMENT

Enhanced interpretation of newborn screening results without analyte cutoff values

(2012) Gregg Marquardt et al.   GENETICS IN MEDICINE

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

Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation

(2012) Raphaël Teissier 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

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

A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics

(2012) Barbara K. Burton et al.   MOLECULAR GENETICS AND METABOLISM

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Follow up of phenylketonuria patients

(2011) M. Demirkol 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

Supporting the Health Care Transition From Adolescence to Adulthood in the Medical Home

(2011)   PEDIATRICS

Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet

(2009) P J Lee et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic☆

(2009) S. Waisbren et al.   MOLECULAR GENETICS AND METABOLISM

Psychiatric symptoms and disorders in phenylketonuria☆

(2009) V.L. Brumm et al.   MOLECULAR GENETICS AND METABOLISM

Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)

(2008) Eva Simon et al.   Health and Quality of Life Outcomes

International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions

(2008) Richard Norman et al.   HEALTH POLICY

Nutritional management of PKU with glycomacropeptide from cheese whey

(2008) D. M. Ney 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