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1 in 12,000 newborns
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Recessive Genetics explained



The following surveys and studies are currently looking for participants. Click on each one for more info.


BC Children’s Hospital survey




Search Science Direct for PKU-related articles, or search for Clinical Trials.


2017 Updates in PKU June-29 – Webinar by Dr. Ania Muntau

2016 Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria

2016 ltr from Biomarin re Kuvan for under age 4

2015 Sem in Perinatol 39(3) Worldwide NBS final

2015 Metabolic Clinics in Canada paper

2015 KUVAN criteria comparison

2015 Individualized long-term outcomes in blood phenylalanine

2015 California Kuvan Criteria revised

2014 Summary of Long-Term Efficacy of Kuvan

2014 Molecular genetics and diagnosis of PKU

2014 Linking genotypes database with locus-specific database and genotype-phenotype correlation in PKU

2014 Kuvan Product Monograph – Canada

2014 Inborn errors of metabolism identified via newborn screening

2014 GMDI Dietary Guidelines for PKU

2014 Genotype prediction of BH4 response

2014 Assessment of Executive Function PKU V6_5793418166095837130

2014 ACMG Guidelines

2014 (PKU-016) A randomized, placebo-controlled, double-blind study of sapropterin

2013-01 Summary of Kuvan responses at BC Children’s

2013 Visual functions in phenylketonuria—evaluating the dopamine and long-chain

2013 Treatment Cost Comparison

2013 European requirements for a minimum standard of care for PKU

2013 A diversified approach for PKU treatment

2012-October 4 Article re AA diet and Kidney damage

2012 Update on the treatment of phenylketonuria

2012 study re phe crystalization

2012 S. Christ presentation at BC PKU Day

2012 Recommendations for the use of sapropterin in phenylketonuria

2012 Neurocognitive and Behavioral Issues in PKU

2012 Food Products Made with GMP for PKU

2012 Estimating the probability of IQ impairment from blook phenylalanine in PKU

2012 ESPKU Benchmark Report

2012 Efficacy and safety of BH4 before the age of 4 years

2012 Appui croissant en faveur des principes devant guider la transformation

2012 Adjuvant Treatment for PKU – 343 pages

2012 A snapshot of special dietary costs and reimbursement

2012 – Summary of NIH conference (NLP)

2012 – A diversified approach for PKU treatment

2011 Tetrahydrobiopterin Therapy for Phenylketonuria in Infants and Young and children

2011 Pre-attentive processing in children with early and continuously treated PKU

2011 PKU High plasma phenylalanine concentrations are associated with increased

2011 History Orphan Drugs

2011 Experimental evidence that phenylalanine is strongly associated to oxidative stress

2011 Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice

2011 Decreased functional brain connectivity in individuals with PKU

2011 Assessing Cognitive and Social-Emotional Functioning

2011 Adherence to diet and quality of life in patients with phenylketonuria

2010 White matter pathology in phenylketonuria

2010 The psychology and neuropathology of phenylketonuria

2010 Screening for cognitive and social–emotional problems in individuals

2010 Sapropterin therapy increases stability of blood phenylalanine levels in patients

2010 Psychosocial issues and outcomes in maternal PKU

2010 Psychosocial aspects of PKU

2010 Psychiatric symptoms and disorders in phenylketonuria

2010 Pathogenesis of cognitive dysfunction in phenylketonuria

2010 Outcomes beyond phenylalanine An international perspective

2010 Non-executive cognitive abilities in individuals

2010 Neurocognitive function in mild hyperphenylalaninemia

2010 Future treatment strategies in phenylketonuria

2010 Executive function in early-treated phenylketonuria

2010 Event-related potential correlates of selective processing in early- and

2010 Effects of concurrent phenylalanine level and dietary control

2010 Cognitive functions in patients with phenylketonuria in long-term treatment

2010 Animal models of brain dysfunction in phenylketonuria

2010 Age-related decline in the microstructural integrity of white matter in children

2010 ADHD, learning, and academic performance in phenylketonuria

2010 – Kuvan Product Monograph

2009 Medical Food for Treatment of PKU

2009 Assessing BH4 responsiveness in a model of statistical process control

2009 Adult issues in phenylketonuria

2009 – PKU & Bone Status (Yannicelli)

2009 – Explanation of PEG-PAL

2008 Stability of blood phenylalanine levels and IQ in children with phenylketonuria

2008 PKU—What is daily practice in various centres in Europe

2008 Does maternal knowledge and parent education affect metabolic control

2007 The response ofpatients with phenylketonuria and elevated serum phenylalanine to treatmentwith oral sapropterin

2007 Phenylalanine blood levels and clinical outcomes in phenylketonuria

2007 Efficacy of Sapropterin

2007 – PKU- Questioning the Gospel (Hanley)

2004? OMMBID – Chapter 77 – Phenylalanine Hydroxylase Deficiency

2000 – Tandem Mass Spectrometry in Newborn Screening

1955 Case Notes summary Sheila Jones


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