Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria

Dried blood spot versus venous blood sampling for phenylalanine and tyrosine

(2020) Kimber van Vliet et al.   Orphanet Journal of Rare Diseases

Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

(2019) Cristina Romani et al.   Orphanet Journal of Rare Diseases

The complete European guidelines on phenylketonuria: diagnosis and treatment

(2017) A. M. J. van Wegberg et al.   Orphanet Journal of Rare Diseases

Key European guidelines for the diagnosis and management of patients with phenylketonuria

(2017) Francjan J van Spronsen et al.   Lancet Diabetes & Endocrinology

Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios

(2016) Mojca Zerjav Tansek et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Impaired Neurotransmission in Early-treated Phenylketonuria Patients

(2016) María Julieta González et al.   Seminars in Pediatric Neurology

Neurocognitive Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria

(2014) Rianne Jahja et al.   JOURNAL OF PEDIATRICS

Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria

(2014) Anna Hood et al.   MOLECULAR GENETICS AND METABOLISM

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

(2013) Karen Anjema et al.   Orphanet Journal of Rare Diseases

Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis

(2013) Martijn J de Groot et al.   Orphanet Journal of Rare Diseases

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

(2013) S. Keil et al.   PEDIATRICS

Depressive symptoms in adolescents with early and continuously treated phenylketonuria: Associations with phenylalanine and tyrosine levels

(2012) Rachael Sharman et al.   GENE

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

Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients

(2011) Maureen Humphrey et al.   MOLECULAR GENETICS AND METABOLISM

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

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

(2010) G.M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)

(2010) Barbara K. Burton et al.   MOLECULAR GENETICS AND METABOLISM

A Preliminary Investigation of the Role of the Phenylalynine:Tyrosine Ratio in Children With Early and Continuously Treated Phenylketonuria: Toward Identification of “Safe” Levels

(2009) Rachael Sharman et al.   DEVELOPMENTAL NEUROPSYCHOLOGY

Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis

(2009) Marieke Hoeksma et al.   MOLECULAR GENETICS AND METABOLISM

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

(2008) Vera Anastasoaie et al.   MOLECULAR GENETICS AND METABOLISM