• A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics
• 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
• Advancements in food science for Phenylketonuria (PKU) management: a comprehensive review
• Advances in Immune Tolerance Induction in Enzyme Replacement Therapy
• Amino Acid Profile Alterations in Phenylketonuria: Implications for Clinical Practice
• Amino acid-stabilized luminescent gold clusters for sensing pterin and its analogues
• 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
• Are carriers unaffected? A literature review of metabolic and health outcomes among genetic carriers of phenylketonuria (PKU)
• Assessing the lived experiences of females with phenylketonuria in their health management
• Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey
• Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria
• Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
• Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience
• Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
• Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry
• 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
• Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye
• Current Advances and Material Innovations in the Search for Novel Treatments of Phenylketonuria
• Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023)
• Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This
• Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients
• Effect of a four-week oral Phe administration on neural activation and cerebral blood flow in adults with early-treated phenylketonuria
• 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
• Emerging biosensors in Phenylketonuria
• Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report
• Engineered Probiotics for the Management of Congenital Metabolic Diseases: A Systematic Review
• Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers
• Evaluation of Decayed, Missing Due to Caries, and Filled Teeth Index in Children with Phenylketonuria in Comparison to Normal Population
• Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA)
• Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients
• First successful outcomes of pegvaliase (PALYNZIQ) in children
• 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 Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the <em>PAH</em> Gene
• Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children
• 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
• High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations
• Homocysteine and methylmalonic acid in Phenylketonuria patients
• Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations
• Improved specificity and efficacy of base-editing therapies with hybrid guide RNAs
• Inborn errors of metabolism and pregnancy
• Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency
• 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
• Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)
• Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect
• Molecular basis of inhibition of the amino acid transporter B⁰AT1 (SLC6A19)
• Morphofunctional Assessment beyond Malnutrition: Fat Mass Assessment in Adult Patients with Phenylketonuria-Systematic Review
• Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants
• Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis
• Navigating the Unique Challenges of Caregiving for Children with Rare Diseases: Are the Care Experiences of All Caregivers the Same? A Focus on Life-Limiting Rare Diseases
• Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup
• Neurovascular retinal impairment in early-treated adults with phenylketonuria
• New findings about neuropathological outcomes in the PKU mouse throughout lifespan
• Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
• 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
• Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage
• Oral microbiota of patients with phenylketonuria: A nation-based cross-sectional study
• PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
• Patient and carer perceptions of video, telephone and in-person clinics for Phenylketonuria (PKU)
• Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
• Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights
• Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria - Case report
• Phenylalanine-Free Infant Formula in Patients with Phenylketonuria: A Retrospective Study
• Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria
• Potential Prebiotic Properties of Whey Protein and Glycomacropeptide in Gut Microbiome
• Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase
• Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
• Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia
• Quality of Life in Patients with Phenylketonuria: A Systematic Review
• Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China
• Rituximab in the treatment of severe childhood pemphigus vulgaris accompanying phenylketonuria: A case report
• Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals
• Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learned
• 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
• Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria
• The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening
• 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 Experience of Phenylketonuria in Pregnancy and the Developing Maternal-Infant Relationship: A Qualitative Study
• The knowledge level of the healthcare professionals responsible for newborns' heel prick tests
• The struggle that is phenylketonuria: What do the patients and caregivers suffer from
• Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria
• Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers
• 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