Neuropsychological Profile of Children with Early and Continuously Treated Phenylketonuria: Systematic Review and Future Approaches

Predictability and inconsistencies in the cognitive outcome of early treated PKU patients

(2017) Filippo Manti et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

(2016) Rianne Jahja et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Factors influencing verbal intelligence and spoken language in children with phenylketonuria

(2015) Zahra Soleymani et al.   INDIAN PEDIATRICS

Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study

(2015) Francesca Nardecchia et al.   MOLECULAR GENETICS AND METABOLISM

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria

(2015) B. Burton et al.   MOLECULAR GENETICS AND METABOLISM

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

(2014)   GENETICS IN MEDICINE

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

(2014) Nicola Longo et al.   GENETICS IN MEDICINE

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

Phenylketonuria Scientific Review Conference: State of the science and future research needs

(2014) Kathryn M. Camp et al.   MOLECULAR GENETICS AND METABOLISM

A comparison of phenylketonuria with attention deficit hyperactivity disorder: Do markedly different aetiologies deliver common phenotypes?

(2013) M. Stevenson et al.   BRAIN RESEARCH BULLETIN

Executive Response Monitoring and Inhibitory Control in Children With Phenylketonuria: Effects of Expectancy

(2013) Gabriel C. Araujo et al.   DEVELOPMENTAL NEUROPSYCHOLOGY

Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

(2013) Caroline Heintz et al.   HUMAN MUTATION

Cognitive Findings and Behavior in Children and Adolescents with Phenylketonuria

(2013) Simona Cappelletti et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria

(2013) Desirée A. White et al.   MOLECULAR GENETICS AND METABOLISM

Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria

(2013) Stephan C.J. Huijbregts et al.   MOLECULAR GENETICS AND METABOLISM

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

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

The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria

(2013) Shawn E. Christ et al.   NeuroImage-Clinical

Executive Functions

(2012) Adele Diamond   Annual Review of Psychology

Ecological assessment of cognitive functions in children with acquired brain injury: A systematic review

(2012) Mathilde P. Chevignard et al.   BRAIN INJURY

Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis

(2012) Christopher J. Fonnesbeck 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

Processing speed and executive abilities in children with phenylketonuria.

(2012) Alicia L. Janos et al.   NEUROPSYCHOLOGY

Phenylalanine hydroxylase deficiency

(2011) John J. Mitchell et al.   GENETICS IN MEDICINE

Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria

(2011) Krista S. Viau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across development

(2011) F.J. van Spronsen et al.   MOLECULAR GENETICS AND METABOLISM

Executive Strategic Processing During Verbal Fluency Performance in Children with Phenylketonuria

(2010) Pia Banerjee et al.   CHILD NEUROPSYCHOLOGY

Executive Function in the Real World

(2010) Gerard A. Gioia et al.   JOURNAL OF HEAD TRAUMA REHABILITATION

Executive dysfunction in children with neurofibromatosis type 1: A study of action planning

(2010) ARNAUD ROY et al.   JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

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

Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria

(2009) R Sharman et al.   CLINICAL GENETICS

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

Why IQ is not a covariate in cognitive studies of neurodevelopmental disorders

(2009) MAUREEN DENNIS et al.   JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY

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

The role of intelligence in phenylketonuria: A review of research and management☆

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

Disruption of prefrontal function and connectivity in individuals with phenylketonuria☆

(2009) Shawn E. Christ et al.   MOLECULAR GENETICS AND METABOLISM

Beyond executive function: Non-executive cognitive abilities in individuals with PKU☆

(2009) Darren Janzen et al.   MOLECULAR GENETICS AND METABOLISM

Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin☆

(2009) R. Gassió et al.   MOLECULAR GENETICS AND METABOLISM

White matter pathology in phenylketonuria☆

(2009) Peter J. Anderson et al.   MOLECULAR GENETICS AND METABOLISM

Executive function in early-treated phenylketonuria: Profile and underlying mechanisms☆☆☆

(2009) Shawn E. Christ et al.   MOLECULAR GENETICS AND METABOLISM

Response monitoring in children with phenylketonuria.

(2009) Gabriel C. Araujo et al.   NEUROPSYCHOLOGY

Executive Functions: Performance-Based Measures and the Behavior Rating Inventory of Executive Function (BRIEF) in Adolescents with Attention Deficit/Hyperactivity Disorder (ADHD)

(2008) Maggie E. Toplak et al.   CHILD NEUROPSYCHOLOGY

Twenty-Five Years of Research on Neurocognitive Outcomes in Early-Treated Phenylketonuria: Intelligence and Executive Function

(2008) Kathryn DeRoche et al.   DEVELOPMENTAL NEUROPSYCHOLOGY

Short-Term Memory, Working Memory, and Executive Functioning in Preschoolers: Longitudinal Predictors of Mathematical Achievement at Age 7 Years

(2008) Rebecca Bull et al.   DEVELOPMENTAL NEUROPSYCHOLOGY

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

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

Cognitive functions and the antioxidant system in phenylketonuric patients.

(2008) Rosa Gassió et al.   NEUROPSYCHOLOGY