RESEARCH

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Published Research

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


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: Acomparison between autism spectrum disorder and phenylketonuria

2020 Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urinedisease): 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 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 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 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 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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