Disease: Hyperphenilalaninemia due to pterin-4-alpha-carbin
- A Case of <em>DNAJC12</em>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection
- A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection
- 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
- 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 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
- Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey
- Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes
- Best practice recommendations for the management of anxiety during the pegvaliase journey
- 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
- Casein glycomacropeptide in phenylketonuria: does it bring clinical benefit?
- Cerebral blood flow and white matter alterations in adults with phenylketonuria
- 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
- Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
- 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
- Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy
- 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
- 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
- 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
- Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA)
- Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran
- 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
- Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH 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
- 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
- Inherited metabolic disorders in Cyprus
- 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
- 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<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
- 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>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-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?
- Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta-analysis
- Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
- Progress of newborn screening in China
- 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
- 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 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 (BH<sub>4</sub>) 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 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 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