Disease: Phenylketonuria type 2
- A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016-2020)
- A treatable inborn error of metabolism presenting in the sixth decade
- Adult PKU Clinics in the UK-Users' Experiences and Perspectives
- Adults with early diagnosis of phenylketonuria have higher resting energy expenditure than adults with late diagnosis
- An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria
- Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening
- Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene
- Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha
- Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France
- Association Analysis of Gene Sequencing by NeoSeq Combined with Tandem Mass Spectrum and Four Neonatal Diseases
- Best practice recommendations for the management of anxiety during the pegvaliase journey
- BH4 as a Therapeutic Target for ADHD: Relevance to Neurotransmitters and Stress-Driven Symptoms
- Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth
- Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with Phenylketonuria
- Breast feeding in infants diagnosed with phenylketonuria (PKU): a scoping review
- Casein glycomacropeptide in phenylketonuria: does it bring clinical benefit?
- Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels
- Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
- Development of analytics in newborn screening-from the Guthrie card to genetics
- Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
- Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data
- Evaluation of a New 'Mix-In' Style Glycomacropeptide-Based Protein Substitute for Food and Drinks in Patients with Phenylketonuria and Tyrosinemia
- Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency
- Evaluation of newborn hearing screening results of infants with phenylketonuria
- Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019
- Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
- Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients
- Feeding difficulties in patients with Phenylketonuria
- First successful outcomes of pegvaliase (PALYNZIQ) in children
- Fully Integrated Point-of-Care Platform for the Self-Monitoring of Phenylalanine in Finger-Prick Blood
- Genetic analysis of a child with restricted cardiomyopathy and phenylketonuria and a literature review
- Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency
- Genomic newborn screening: Are we entering a new era of screening?
- Glycomacropeptide (GMP) rescued the oxidative and inflammatory activity of free L-AAs in human Caco-2 cells: New insights that support GMP as a valid and health-promoting product for the dietary management of phenylketonuria (PKU) patients
- Glycomacropeptide-Based Protein Substitutes for Children with Phenylketonuria in Italy: A Nutritional Comparison
- Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data
- Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients - A nationwide study of health insurance claims data
- Health-related quality of life in a european sample of adults with early-treated classical PKU
- Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia
- Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report
- Increased peripheral of brain-derived neurotrophic factor levels in phenylketonuric patients treated with l-carnitine
- Intake Modalities of Amino Acid Supplements: A Real-World Data Collection from Phenylketonuria Patients
- Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
- Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
- Management of phenylketonuria in European PKU centres remains heterogeneous
- Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model
- Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet
- Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City
- Mutational landscape of phenylketonuria in Iran
- Natural Protein Intake in Children with Phenylketonuria: Prescription vs. Actual Intakes
- Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil
- Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed
- New challenges in management of phenylketonuria in pregnancy: a case report
- Newborn screening in France: news and perspectives
- Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations
- Odimet<sup>®</sup>: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic
- Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females
- Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States
- Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)
- Phenylalanine Tolerance over Time in Phenylketonuria: A Systematic Review and Meta-Analysis
- Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo <sup>1</sup>H-NMR Analysis
- Phenylketonuria from the perspectives of patients in Türkiye
- Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria
- Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy
- Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
- Preliminary Data on Free Use of Fruits and Vegetables Containing Phenylalanine 76-100 mg/100 g of Food in 16 Children with Phenylketonuria: 6 Months Follow-Up
- Progress of newborn screening in China
- Quality of life of adult patients with hereditary fructose intolerance
- Quantification of derivatized phenylalanine and tyrosine in dried blood spots using liquid chromatography with tandem spectrometry for newborn screening of phenylketonuria
- Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing
- Redesign of an Escherichia coli Nissle treatment for phenylketonuria using insulated genomic landing pads and genetic circuits to reduce burden
- Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China
- Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022
- Struggle for the future health of adolescent patients with phenylketonuria and parents with a sick child due to the economic crisis
- Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence
- Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria
- Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters
- Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria
- The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review
- The effect of phenylketonuria on family quality of life
- The effects of phenylalanine and tyrosine levels on dopamine production in rat PC12 cells. Implications for treatment of phenylketonuria, tyrosinemia type 1 and comorbid neurodevelopmental disorders
- The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU)
- Total choline intake and working memory performance in adults with phenylketonuria
- Total Protein Intake in Patients with PKU: Adequacy Evaluation According to the European PKU Guidelines from 2017
- Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
- Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria
- Valorization of pistachio industrial waste: Simultaneous recovery of pectin and phenolics, and their application in low-phenylalanine cookies for phenylketonuria