Disease: Phenylketonuria
- A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics
- A phenylalanine-free recombinant nutritional protein for the dietary management of phenylketonuria
- A Synthetic Formula Amino Acid Diet Leads to Microbiome Dysbiosis, Reduced Colon Length, Inflammation, and Altered Locomotor Activity in C57BL/6J Mice
- A treatable inborn error of metabolism presenting in the sixth decade
- Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico
- Advances in Immune Tolerance Induction in Enzyme Replacement Therapy
- An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria
- Analysis of gene mutations and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening
- 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
- Are Phe-Free Protein Substitutes Available in Italy for Infants with PKU All the Same?
- Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders
- Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria
- Best practice recommendations for the management of anxiety during the pegvaliase journey
- Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with Phenylketonuria
- Casein glycomacropeptide in phenylketonuria: does it bring clinical benefit?
- Cerebral blood flow and white matter alterations in adults with 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
- Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
- DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings
- DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration
- Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients
- Editorial: Post COVID-19: the nucleoside-modified messenger RNA (modRNA) platform
- 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
- Engineered Probiotics for the Management of Congenital Metabolic Diseases: A Systematic Review
- Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data
- Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency
- Evaluation of Decayed, Missing Due to Caries, and Filled Teeth Index in Children with Phenylketonuria in Comparison to Normal Population
- 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
- 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
- Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children
- Glycomacropeptide-Based Protein Substitutes for Children with Phenylketonuria in Italy: A Nutritional Comparison
- Homocysteine and methylmalonic acid in Phenylketonuria patients
- Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations
- In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances
- Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
- Intake Modalities of Amino Acid Supplements: A Real-World Data Collection from Phenylketonuria Patients
- Interactions between Lipid Vesicle Membranes and Single Amino Acid Fibrils: Probable Origin of Specific Neurological Disorders
- Interactions of deprotonated phenylalanine with gold Clusters: Theoretical study with prospects for amino acid detection
- Liver-directed gene therapy for inherited metabolic diseases
- Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
- Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)
- Management of phenylketonuria in European PKU centres remains heterogeneous
- Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect
- Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model
- Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review
- Natural Protein Intake in Children with Phenylketonuria: Prescription vs. Actual Intakes
- Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
- Newborn screening in France: news and perspectives
- Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage
- Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study
- 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
- PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
- Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights
- Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria
- Phenylalanine-based fibrillar systems
- Phenylketonuria from the perspectives of patients in Turkiye
- Phenylketonuria in adults: what do we know?
- PKU in Adults: What do we know?
- Poly(vinyl chloride)/Nanocarbon Composites for Advanced Potentiometric Membrane Sensor Design
- 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
- Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
- Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report
- Progress of newborn screening in China
- Quality of Life in Patients with Phenylketonuria: A Systematic Review
- Quantification of derivatized phenylalanine and tyrosine in dried blood spots using liquid chromatography with tandem spectrometry for newborn screening of phenylketonuria
- Recent trends in targeted delivery of smart nanocarrier-based microbial enzymes for therapeutic applications
- 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
- Retracted: Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria
- Roles of the N-terminal motif in improving the activity and soluble expression of phenylalanine ammonia lyases in Escherichia coli
- Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals
- 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 analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes
- 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
- Ten years of a neonatal screening program for hemoglobinopathies in Friuli-Venezia Giulia: first regional experience in Italy
- 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 Impact of <em>IL1B rs1143634</em> and <em>DEFB1 rs11362</em> Variants on Periodontitis Risk in Phenylketonuria and Type 1 Diabetes Mellitus Patients in a Latvian Population
- The Impact of IL1B rs1143634 and DEFB1 rs11362 Variants on Periodontitis Risk in Phenylketonuria and Type 1 Diabetes Mellitus Patients in a Latvian Population
- 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)
- 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
- Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers