The complete European guidelines on phenylketonuria: diagnosis and treatment
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Title
The complete European guidelines on phenylketonuria: diagnosis and treatment
Authors
Keywords
European, Guidelines, Phenylalanine hydroxylase deficiency, PAH deficiency, Phenylketonuria, PKU, Hyperphenylalaninemia, Phenylalanine, Treatment, Management, Recommendations, Tetrahydrobiopterin, Sapropterin
Journal
Orphanet Journal of Rare Diseases
Volume 12, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-10-12
DOI
10.1186/s13023-017-0685-2
References
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Related references
Note: Only part of the references are listed.- Key European guidelines for the diagnosis and management of patients with phenylketonuria
- (2017) Francjan J van Spronsen et al. Lancet Diabetes & Endocrinology
- Parental strategies to help children with phenylketonuria (PKU) cope with feeling different
- (2015) Sheila Zwiesele et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia
- (2015) Urh Groselj et al. CLINICAL BIOCHEMISTRY
- Food acceptance and neophobia in children with phenylketonuria: a prospective controlled study
- (2015) S. Evans et al. JOURNAL OF HUMAN NUTRITION AND DIETETICS
- Mapping the functional landscape of frequentphenylalanine hydroxylase(PAH) genotypes promotes personalised medicine in phenylketonuria
- (2015) Marta K Danecka et al. JOURNAL OF MEDICAL GENETICS
- Newborn screening blood spot analysis in the UK: influence of spot size, punch location and haematocrit
- (2015) AJ Lawson et al. JOURNAL OF MEDICAL SCREENING
- Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling
- (2015) Friedrich Trefz et al. MOLECULAR GENETICS AND METABOLISM
- The challenges of managing coexistent disorders with phenylketonuria: 30 cases
- (2015) A. MacDonald et al. MOLECULAR GENETICS AND METABOLISM
- Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
- (2015) Geertje B. Liemburg et al. MOLECULAR GENETICS AND METABOLISM
- Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria
- (2015) Anna Hood et al. MOLECULAR GENETICS AND METABOLISM
- Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach
- (2015) A. Aguiar et al. MOLECULAR GENETICS AND METABOLISM
- Long-term safety and efficacy of sapropterin: The PKUDOS registry experience
- (2015) Nicola Longo 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
- Bone health in phenylketonuria: a systematic review and meta-analysis
- (2015) Serwet Demirdas et al. Orphanet Journal of Rare Diseases
- Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
- (2015) Annet M Bosch et al. Orphanet Journal of Rare Diseases
- Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires
- (2015) Antoine Regnault et al. Orphanet Journal of Rare Diseases
- Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice
- (2015) Danique van Vliet et al. PLoS One
- Current Information and Asian Perspectives on Long-Chain Polyunsaturated Fatty Acids in Pregnancy, Lactation, and Infancy: Systematic Review and Practice Recommendations from an Early Nutrition Academy Workshop
- (2014) Berthold Koletzko et al. ANNALS OF NUTRITION AND METABOLISM
- The Micronutrient Status of Patients with Phenylketonuria on Dietary Treatment: An Ongoing Challenge
- (2014) Sharon Evans et al. ANNALS OF NUTRITION AND METABOLISM
- Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes
- (2014) D. Simaite et al. DIABETES
- Unrestricted fruits and vegetables in the PKU diet: a 1-year follow-up
- (2014) C Rohde et al. EUROPEAN JOURNAL OF CLINICAL NUTRITION
- Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria
- (2014) Sarah Wettstein et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Management of adult patients with phenylketonuria: survey results from 24 countries
- (2014) Friedrich K. Trefz et al. EUROPEAN JOURNAL OF PEDIATRICS
- Phenylalanine hydroxylase deficiency: diagnosis and management guideline
- (2014) GENETICS IN MEDICINE
- Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
- (2014) Rani H. Singh et al. 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
- Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver
- (2014) Hiu Man Viecelli et al. HEPATOLOGY
- Dual-Energy X-Ray Absorptiometry Interpretation and Reporting in Children and Adolescents: The Revised 2013 ISCD Pediatric Official Positions
- (2014) Nicola J. Crabtree et al. JOURNAL OF CLINICAL DENSITOMETRY
- A questionnaire survey on the usage of low protein staple foods by people with phenylketonuria in Scotland
- (2014) B. Cochrane et al. JOURNAL OF HUMAN NUTRITION AND DIETETICS
- Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
- (2014) François Feillet et al. JOURNAL OF INHERITED METABOLIC DISEASE
- A systematic review of bone mineral density and fractures in phenylketonuria
- (2014) Karen E. Hansen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism
- (2014) Francesca Rosini et al. JOURNAL OF NEUROLOGY
- Sapropterin Is Safe and Effective in Patients less than 4-Years-Old with BH4-Responsive Phenylalanine Hydroxylase Deficiency
- (2014) Haruo Shintaku et al. JOURNAL OF PEDIATRICS
- Neurocognitive Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria
- (2014) Rianne Jahja et al. JOURNAL OF PEDIATRICS
- Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
- (2014) Nicola Longo et al. LANCET
- Newborn screening in southeastern Europe
- (2014) Urh Groselj et al. MOLECULAR GENETICS AND METABOLISM
- Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry
- (2014) Dorothy K. Grange et al. MOLECULAR GENETICS AND METABOLISM
- Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria
- (2014) Anna Hood et al. MOLECULAR GENETICS AND METABOLISM
- Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing
- (2014) Yan-yan Cao 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
- Progressive neuropsychiatric manifestations of phenylketonuria in adulthood
- (2014) L. Daelman et al. REVUE NEUROLOGIQUE
- Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency
- (2013) Roberto Cerone et al. ADVANCES IN THERAPY
- Controlled Diet in Phenylketonuria and Hyperphenylalaninemia may Cause Serum Selenium Deficiency in Adult Patients: The Czech Experience
- (2013) Dagmar Procházková et al. BIOLOGICAL TRACE ELEMENT RESEARCH
- Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood
- (2013) Hubertus C.M.T. Prinsen et al. CLINICAL BIOCHEMISTRY
- Simultaneous determination of phenylalanine and tyrosine in peripheral capillary blood by HPLC with ultraviolet detection
- (2013) Xi-ming Mo et al. CLINICAL BIOCHEMISTRY
- PKU patients on a relaxed diet may be at risk for micronutrient deficiencies
- (2013) C Rohde et al. EUROPEAN JOURNAL OF CLINICAL NUTRITION
- Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing
- (2013) Daniel Trujillano et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Cognitive Findings and Behavior in Children and Adolescents with Phenylketonuria
- (2013) Simona Cappelletti et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys
- (2013) L. E. Bernstein et al. JOURNAL OF HUMAN NUTRITION AND DIETETICS
- Body mass index in adult patients with diet-treated phenylketonuria
- (2013) L. V. Robertson et al. JOURNAL OF HUMAN NUTRITION AND DIETETICS
- Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects
- (2013) Shoji Yano et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria
- (2013) Huiling Peng et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents
- (2013) Eva Thimm et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting
- (2013) S. Ferre et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Main issues in micronutrient supplementation in phenylketonuria
- (2013) A.M. Lammardo et al. MOLECULAR GENETICS AND METABOLISM
- 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
- Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU
- (2013) Luis Aldámiz-Echevarría et al. MOLECULAR GENETICS AND METABOLISM
- Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study
- (2013) Serwet Demirdas et al. MOLECULAR GENETICS AND METABOLISM
- Micronutrient status in phenylketonuria
- (2013) M. Robert et al. MOLECULAR GENETICS AND METABOLISM
- Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
- (2013) Ben Pode-Shakked et al. MOLECULAR GENETICS AND METABOLISM
- Early dietary treated patients with phenylketonuria can achieve normal growth and body composition
- (2013) Júlio C. Rocha et al. MOLECULAR GENETICS AND METABOLISM
- Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes
- (2013) Maureen Cleary et al. MOLECULAR GENETICS AND METABOLISM
- Mental health and social functioning in early treated Phenylketonuria: The PKU-COBESO study
- (2013) Rianne Jahja et al. MOLECULAR GENETICS AND METABOLISM
- White matter integrity and executive abilities in individuals with phenylketonuria
- (2013) Jo Ann V. Antenor-Dorsey et al. MOLECULAR GENETICS AND METABOLISM
- Risk factors for developing mineral bone disease in phenylketonuric patients
- (2013) Alicia Mirás et al. MOLECULAR GENETICS AND METABOLISM
- Neurocognitive functioning in adults with phenylketonuria: Results of a long term study
- (2013) J. Weglage 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
- Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective
- (2013) Tobias S Hagedorn 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
- Nutrient Intake Values for Folate during Pregnancy and Lactation Vary Widely around the World
- (2013) Rosemary Stamm et al. Nutrients
- The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria
- (2013) Shawn E. Christ et al. NeuroImage-Clinical
- Delayed diagnosis of phenylketonuria - a case report of two siblings
- (2013) D. Narayanan et al. ANNALS OF CLINICAL BIOCHEMISTRY
- Unrestricted consumption of fruits and vegetables in phenylketonuria: no major impact on metabolic control
- (2012) C Rohde et al. EUROPEAN JOURNAL OF CLINICAL NUTRITION
- Depressive symptoms in adolescents with early and continuously treated phenylketonuria: Associations with phenylalanine and tyrosine levels
- (2012) Rachael Sharman et al. GENE
- Living With Phenylketonuria From the Point of View of Children, Adolescents, and Young Adults
- (2012) Vincenzo Di Ciommo et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- 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
- Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation
- (2012) Raphaël Teissier et al. JOURNAL OF INHERITED METABOLIC DISEASE
- An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
- (2012) Thomas Opladen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Chronic kidney disease in adolescent and adult patients with phenylketonuria
- (2012) Julia B. Hennermann et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report
- (2012) R. Salvarinova-Zivkovic et al. MOLECULAR GENETICS AND METABOLISM
- Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis
- (2012) M. Zimmermann et al. MOLECULAR GENETICS AND METABOLISM
- Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome
- (2012) Júlio C. Rocha et al. MOLECULAR GENETICS AND METABOLISM
- High prevalence of overweight and obesity in females with phenylketonuria
- (2012) Lindsay C. Burrage et al. MOLECULAR GENETICS AND METABOLISM
- Suggested guidelines for the diagnosis and management of urea cycle disorders
- (2012) Johannes Häberle et al. Orphanet Journal of Rare Diseases
- European guidance for the diagnosis and management of osteoporosis in postmenopausal women
- (2012) J. A. Kanis et al. OSTEOPOROSIS INTERNATIONAL
- Low Bone Strength Is a Manifestation of Phenylketonuria in Mice and Is Attenuated by a Glycomacropeptide Diet
- (2012) Patrick Solverson et al. PLoS One
- Adherence to diet and quality of life in patients with phenylketonuria
- (2011) G Cotugno et al. ACTA PAEDIATRICA
- Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies
- (2011) Babette W Prick et al. AMERICAN JOURNAL OF CLINICAL NUTRITION
- Adult Patients with Well-Controlled Phenylketonuria Tolerate Incidental Additional Intake of Phenylalanine
- (2011) Margreet van Rijn et al. ANNALS OF NUTRITION AND METABOLISM
- Neurocognitive function in mild hyperphenylalaninemia
- (2011) JAUME CAMPISTOL et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
- (2011) M. Staudigl et al. HUMAN MOLECULAR GENETICS
- Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening
- (2011) Hironori Nagasaka et al. JOURNAL OF BONE AND MINERAL METABOLISM
- Impact of Patient-Reported Outcomes in Oncology: A Longitudinal Analysis of Patient-Physician Communication
- (2011) Elena E. Takeuchi et al. JOURNAL OF CLINICAL ONCOLOGY
- Artificial sweeteners – a review
- (2011) Sanchari Chattopadhyay et al. JOURNAL OF FOOD SCIENCE AND TECHNOLOGY-MYSORE
- Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience
- (2011) Thomas Opladen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mild hyperphenylalaninemia: to treat or not to treat
- (2011) Francjan J. van Spronsen JOURNAL OF INHERITED METABOLIC DISEASE
- Bone development in children and adolescents with PKU
- (2011) A. B. Mendes et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time
- (2011) Charlotte Dawson et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria
- (2011) Krista S. Viau et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Transition of young adults with phenylketonuria from pediatric to adult care
- (2011) Ulrike Mütze et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mental and motor development and psychosocial adjustment of Chinese children with phenylketonuria
- (2011) Wei Wu et al. JOURNAL OF PAEDIATRICS AND CHILD HEALTH
- Impact of Metabolic Control on Bone Quality in Phenylketonuria and Mild Hyperphenylalaninemia
- (2011) Francesco Porta et al. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
- Extremely high phenylalanine levels in a newborn on parenteral nutrition: phenylketonuria in the neonatal intensive care unit
- (2011) H J Lin et al. Journal of Perinatology
- Adult phenylketonuria outcome and management
- (2011) F. Trefz et al. MOLECULAR GENETICS AND METABOLISM
- PKU: High plasma phenylalanine concentrations are associated with increased prevalence of mood swings
- (2011) Karen Anjema et al. MOLECULAR GENETICS AND METABOLISM
- Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria
- (2011) Yoshitami Sanayama et al. MOLECULAR GENETICS AND METABOLISM
- Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria
- (2011) Rani H. Singh et al. MOLECULAR GENETICS AND METABOLISM
- Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?
- (2011) Hulya Gokmen-Ozel et al. MOLECULAR GENETICS AND METABOLISM
- 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
- Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU)
- (2011) Kelly J. Hamman et al. MOLECULAR GENETICS AND METABOLISM
- Physical development in patients with phenylketonuria on dietary treatment: A retrospective study
- (2011) Amaya Belanger-Quintana et al. MOLECULAR GENETICS AND METABOLISM
- Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
- (2011) Nenad Blau et al. MOLECULAR GENETICS AND METABOLISM
- Management of Pregnancy in Women With Genetic Disorders: Part 2: Inborn Errors of Metabolism, Cystic Fibrosis, Neurofibromatosis Type 1, and Turner Syndrome in Pregnancy
- (2011) Shilpa P. Chetty et al. OBSTETRICAL & GYNECOLOGICAL SURVEY
- Reporting health-related quality of life scores to physicians during routine follow-up visits of pediatric oncology patients: Is it effective?
- (2011) Vivian Engelen et al. PEDIATRIC BLOOD & CANCER
- Breast-feeding Success Among Infants With Phenylketonuria
- (2011) Sandra A. Banta-Wright et al. Journal of Pediatric Nursing-Nursing Care of Children & Families
- Does impaired growth of PKU patients correlate with the strictness of dietary treatment?
- (2010) FJ Spronsen et al. ACTA PAEDIATRICA
- Evidence that l-Carnitine and Selenium Supplementation Reduces Oxidative Stress in Phenylketonuric Patients
- (2010) A. Sitta et al. CELLULAR AND MOLECULAR NEUROBIOLOGY
- L-Phenylalanine concentration in blood of phenylketonuria patients: a modified enzyme colorimetric assay compared with amino acid analysis, tandem mass spectrometry, and HPLC methods
- (2010) Veronica De Silva et al. CLINICAL CHEMISTRY AND LABORATORY MEDICINE
- Impact of a Preconception Counseling Program for Teens With Type 1 Diabetes (READY-Girls) on Patient-Provider Interaction, Resource Utilization, and Cost
- (2010) A. F. R. Fischl et al. DIABETES CARE
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- (2010) Piotr Adamczyk et al. JOURNAL OF BONE AND MINERAL METABOLISM
- BH4 therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up
- (2010) Rani H. Singh et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2010) Amber E. ten Hoedt et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2010) Michael D. Cabana et al. JOURNAL OF PARENTERAL AND ENTERAL NUTRITION
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- (2010) Nenad Blau et al. LANCET
- Nutritional requirements during lactation. Towards European alignment of reference values: the EURRECA network
- (2010) Victoria Hall Moran et al. Maternal and Child Nutrition
- Phenylketonuria management from an European perspective: A commentary
- (2010) Francjan J. van Spronsen MOLECULAR GENETICS AND METABOLISM
- Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria
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- (2010) Barbara K. Burton et al. MOLECULAR GENETICS AND METABOLISM
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- (2009) Sandra C van Calcar et al. AMERICAN JOURNAL OF CLINICAL NUTRITION
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- (2009) E. Vegni et al. CHILD CARE HEALTH AND DEVELOPMENT
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- (2009) Kathleen M Rasmussen et al. CURRENT OPINION IN OBSTETRICS & GYNECOLOGY
- A Preliminary Investigation of the Role of the Phenylalynine:Tyrosine Ratio in Children With Early and Continuously Treated Phenylketonuria: Toward Identification of “Safe” Levels
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- (2009) F. J. van Spronsen et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2009) F. J. van Spronsen et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2009) Nenad Blau et al. MOLECULAR GENETICS AND METABOLISM
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- (2009) Peter J. Anderson et al. MOLECULAR GENETICS AND METABOLISM
- Psychosocial aspects of PKU: Hidden disabilities – A review☆
- (2009) J.K. Gentile 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
- Psychosocial issues and outcomes in maternal PKU☆
- (2009) Richard Koch et al. MOLECULAR GENETICS AND METABOLISM
- Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria
- (2009) Renzo Manara et al. NEURORADIOLOGY
- Follow-up results on monitoring and discussing health-related quality of life in adolescent diabetes care: benefits do not sustain in routine practice
- (2009) Maartje De Wit et al. PEDIATRIC DIABETES
- Adults with untreated phenylketonuria: out of sight, out of mind
- (2008) Glynis H. Murphy et al. BRITISH JOURNAL OF PSYCHIATRY
- Monitoring and Discussing Health-Related Quality of Life in Adolescents With Type 1 Diabetes Improve Psychosocial Well-Being: A randomized controlled trial
- (2008) M. de Wit et al. DIABETES CARE
- Randomized Efficacy Trial of Early Preconception Counseling for Diabetic Teens (READY-Girls)
- (2008) D. Charron-Prochownik et al. DIABETES CARE
- Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)
- (2008) Eva Simon et al. Health and Quality of Life Outcomes
- Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource
- (2008) S. J. Durham-Shearer et al. JOURNAL OF HUMAN NUTRITION AND DIETETICS
- Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria?
- (2008) A. MacDonald et al. JOURNAL OF HUMAN NUTRITION AND DIETETICS
- Nutritional management of PKU with glycomacropeptide from cheese whey
- (2008) D. M. Ney et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria
- (2008) F. K. Trefz et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Effect of BH4 supplementation on phenylalanine tolerance
- (2008) A. Burlina et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The truth of treating patients with phenylketonuria after childhood: The need for a new guideline
- (2008) F. J. van Spronsen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Quality of life in noncompliant adults with phenylketonuria after resumption of the diet
- (2008) M. Bik-Multanowski et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Acute hair loss in phenylketonuria
- (2008) A Donati et al. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
- Stability of blood phenylalanine levels and IQ in children with phenylketonuria
- (2008) Vera Anastasoaie et al. MOLECULAR GENETICS AND METABOLISM
- Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis
- (2008) Julia Albrecht et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil
- (2008) Junaura Rocha Barretto et al. NUTRITION RESEARCH
- Assessment and interpretation of micronutrient status during pregnancy
- (2008) Simon Wheeler PROCEEDINGS OF THE NUTRITION SOCIETY
- Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
- (2007) Marcel R. Zurflüh et al. HUMAN MUTATION
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