RESEARCH
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Published Research and Articles.
2022 - An article on Dr. Charles Scriver
2022 - PHEFREE - Consortium spotlight: Advancing discoveries in Phenylalanine Disorders
2022 - Early Stage investigator Spotlight: Stephanie sacharow helps patients with phenylketonuria overcome barriers to treatment.
2022 - 01 - Synlogic: Announces progress towards 2022.
2022 - Why most ideas for new drugs fail
2021 - Dietetic Management of Adults with Phenylketonuria (PKU) in the UK: A Care Consensus Document
2021 - Synlogic Announces Initiation of Phase 1 Study of SYNB1934, a Next-Generation Strain for the Treatment of Phenylketonuria (PKU)
2021 - Homology Medicines Announces Presentations on its Expanding Genetic Medicines Platform and Internal GMP Manufacturing at the American Society of Gene & Cell Therapy Annual Meeting
2021 - Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
2021 Next 10 years to come an advanced way through technological innovations for newborn metabolic screening market
2021 The Effect of Improved Dietary Control on Cognitive and Psychiatric Functioning in Adults with PKU.
2021 - 50 Years Ago in THE JOURNAL OF PEDIATRICS
2021 Enteral tube feeding in patients receiving dietary treatment for metabolic diseases A retrospective analysis in a large French cohort
2021 Diffusion kurtosis imaging detects subclinical white matter abnormalities in Phenylketonuria
2021 Long-term preservation of intellectual functioning in sapropterin-treatedinfants and young children with phenylketonuria A seven-year analysis
2021 CRISPR: A new paradigm of theranostics
2021 Nutrient management in the intrapartum period in maternal maple syrup urine disease
2020 Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria
2020 - Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services
2020 Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
2020 The effects of early-treated phenylketonuria on volumetric measures of the cerebellum
2020 Body fat percentage in adolescents with phenylketonuria and associated factors
2020 - PKU and the Brain New Research and Therapies (NPKUA)
2020 Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria
2020 Population and evolutionary genetics of the PAH locus to uncover over dominance and adaptive mechanisms in phenylketonuria: Results from a multi ethnic study
2020 Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls
2020 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
2020 Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
2020 Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients
2020 Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire
2019 A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences
2019 Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments
2019 Culturable gut bacteria lack Escherichia coli in children with phenylketonuria
2019 Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria
2019 Determining factors of the cognitive outcome in early treated PKU: A studyof 39 pediatric patients
2019 Overweight in classical phenylketonuria children: A retrospective cohort study
2019 Of mice and men: Plasma phenylalanine reductionin PKU corrects neurotransmitter pathways in the brain
2019 Prescribing issues experienced by people living with phenylketonuria in the UK
2019 Prevalence of sleep disorders in early-treatedphenylketonuric children and adolescents. Correlation with dopamine and serotonin status
2019 The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records
2019 The financial and time burden associated with phenylketonuria treatment inthe United States
2019 White and gray matter brain development in children and young adults with phenylketonuria
2018 Living with Phenylketonuria: Lessons from the PKU community
2018 The development of PAL story - We are honoured that Dr. Sarkissian is part of our advisory board.
2018 Reproductive experience of women living with phenylketonuria
2018 Living with phenylketonuria in adulthood: The PKU ATTITUDE study
2018 Sex differences in body composition and bone mineral density inphenylketonuria: A cross-sectional study
2018 Association of immune response with efficacy and safety outcomesin adults with phenylketonuria administered pegvaliase in phase 3clinical trials
2018 Salivary serotonin does not correlate with central serotonin turnover inadult phenylketonuria (PKU) patients
2018 Early feeding practices in infants with phenylketonuria across Europe
2018 Fourteen new mutations ofBCKDHA,BCKDHBandDBTgenes associatedwith maple syrup urine disease (MSUD) in Malaysian population
2018 Natural history of children and adults with maple syrup urine disease in theNBS-MSUD Connect registry
2018 Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease
2018 Prevalence of comorbid conditions among adult patients diagnosed withphenylketonuria
2018 Pegvaliase for the treatment of phenylketonuria: Results of a long-termphase 3 clinical trial program (PRISM)
2018 Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blindrandomized discontinuation Phase 3 clinical trial
2018 The effects of low protein products availability on growth parametersand metabolic control in selected amino acid metabolism disorderspatients
2018 PAHmutation spectrum and correlation with PKUmanifestation in north Jiangsu province population
2017 Adherence to clinic recommendations among patients with phenylketonuria in the United States
2017 Neuropsychiatric comorbidities in adults with phenylketonuria.pdf
2017 Treatment adherence during childhood in individuals with phenylketonuria.pdf
2017 Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria
2017 Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals
2017 First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU
2017 Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase)
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
2016 Plasma amino acid and urine organic acid profiles of Filipino patients.pdf
2015 Sem in Perinatol 39(3) Worldwide NBS final
2015 Weight Management in Phenylketonuria: What should be Monitored?
2015 Current Status of Newborn Screening worldwide
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 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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