• A base editing strategy using mRNA-LNPs for in vivo correction of the most frequent phenylketonuria variant
• A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
• A phenylalanine-free recombinant nutritional protein for the dietary management of phenylketonuria
• A treatable inborn error of metabolism presenting in the sixth decade
• Adult PKU Clinics in the UK-Users' Experiences and Perspectives
• 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 PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria
• Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene
• 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 Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
• Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with Phenylketonuria
• Breast feeding in infants diagnosed with phenylketonuria (PKU): a scoping review
• Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience
• Casein glycomacropeptide in phenylketonuria: does it bring clinical benefit?
• Cerebral blood flow and white matter alterations in adults with phenylketonuria
• Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria
• 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
• Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey
• Complete correction of murine phenylketonuria by selection-enhanced hepatocyte transplantation
• Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye
• Development of analytics in newborn screening-from the Guthrie card to genetics
• DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration
• Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients
• Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries
• Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
• Emerging biosensors in Phenylketonuria
• Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report
• Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data
• Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers
• 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
• Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients
• Fast Label-Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes
• First successful outcomes of pegvaliase (PALYNZIQ) in children
• From pain to gain: Leveraging acetaminophen in hepatocyte transplantation for phenylketonuria
• Fully Integrated Point-of-Care Platform for the Self-Monitoring of Phenylalanine in Finger-Prick Blood
• Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria
• Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria
• Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency
• Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the <em>PAH</em> Gene
• Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran
• Glycomacropeptide-Based Protein Substitutes for Children with Phenylketonuria in Italy: A Nutritional Comparison
• Glycomacropeptide: A comprehensive understanding of its major biological characteristics and purification methodologies
• 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
• Increased peripheral of brain-derived neurotrophic factor levels in phenylketonuric patients treated with l-carnitine
• Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China
• 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
• Morphofunctional Assessment beyond Malnutrition: Fat Mass Assessment in Adult Patients with Phenylketonuria-Systematic Review
• Natural Protein Intake in Children with Phenylketonuria: Prescription vs. Actual Intakes
• New challenges in management of phenylketonuria in pregnancy: a case report
• Newborn Screening Has Moved Way Beyond PKU
• Newborn screening in France: news and perspectives
• No Impairment in Bone Turnover or Executive Functions in Well-Treated Preschoolers with Phenylketonuria-A Pilot Study
• Odimet^®: 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
• Oral microbiota of patients with phenylketonuria: A nation-based cross-sectional study
• Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females
• PAH deficient pathology in humanized c.1066-11G&gt;A phenylketonuria mice
• Patient and carer perceptions of video, telephone and in-person clinics for Phenylketonuria (PKU)
• Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights
• Phenylalanine-Free Infant Formula in Patients with Phenylketonuria: A Retrospective Study
• Phenylketonuria from the perspectives of patients in Türkiye
• Phenylketonuria in adults: what do we know?
• Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive &amp; 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
• Progress of newborn screening in China
• Quantification of derivatized phenylalanine and tyrosine in dried blood spots using liquid chromatography with tandem spectrometry for newborn screening of phenylketonuria
• Relative Oral Bioavailability and Food Effects of Two Sepiapterin Formulations in Healthy Participants
• 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
• Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals
• Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape
• Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria
• 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 literature review of the somatic comorbidities experienced by adults with phenylketonuria
• 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
• Tetrahydrobiopterin (BH₄) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model
• The clinical relevance of novel biomarkers as outcome parameter in adults with 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)
• The relationship between working memory and anxiety in individuals with early treated phenylketonuria (PKU)
• The Sage of Tea and the Inherited Metabolic Diseases
• The struggle that is phenylketonuria: What do the patients and caregivers suffer from
• 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
• Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins
• Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis
• Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels