Associated Papers
Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.
Karaca M et al.
Human Genomics, 2026
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice.
Lundkvist P et al.
Jimd Reports, 2026
Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.
Bik-Multanowski M et al.
Scientific Reports, 2025
Base editing strategies for in vivo correction of two highly recurrent phenylketonuria variants.
Quigley A et al.
Molecular Therapy. Nucleic Acids, 2025
The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.
Yu I et al.
International Journal of Stem Cells, 2025
Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs.
Whittaker MN et al.
Nature Biomedical Engineering, 2025
Advancing Gene Therapy for Phenylketonuria: From Precision Editing to Clinical Translation.
Yu I et al.
International Journal of Molecular Sciences, 2025
Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency.
Fathallah R et al.
Biomedical Reports, 2025
Personalized Genotype-Based Approach for Treatment of Phenylketonuria.
Gundorova P et al.
Journal of Inherited Metabolic Disease, 2025
The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria.
Akbulut S et al.
Molecular Genetics and Metabolism, 2025
Computational Study of Pathogenic Variants in Phenylalanine-4-hydroxylase (PAH): Insights into Structure, Dynamics, and BH4 Binding.
Islam SM et al.
Acs Omega, 2025
Endoplasmic reticulum stress pathways and cellular death mechanisms in patients with phenylketonuria.
Gürses Cila HE et al.
Molecular Biology Reports, 2025
Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.
Klaassen K et al.
Scientific Reports, 2025
Experimental Animal Models of Phenylketonuria: Pros and Cons.
Bobrova NA et al.
International Journal of Molecular Sciences, 2025
Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.
Zhang C et al.
Orphanet Journal of Rare Diseases, 2025
Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.
Kuzucu FN et al.
Metabolic Brain Disease, 2025
Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs.
Whittaker MN et al.
Biorxiv : the Preprint Server for Biology, 2025
Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey.
Balasar Ö et al.
Biochemical Genetics, 2025
The relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients.
İlgüy M et al.
European Journal of Pediatrics, 2024
Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients.
Burlina AP et al.
European Journal of Neurology, 2024
Prime editing: A gene precision editing tool from inception to present.
Liu Z et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.
Aguirre AS et al.
Bmc Pediatrics, 2024
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Martínez-Pizarro A et al.
Human Molecular Genetics, 2024
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Tebieva IS et al.
International Journal of Molecular Sciences, 2024
A base editing strategy using mRNA-LNPs for in vivo correction of the most frequent phenylketonuria variant.
Brooks DL et al.
Hgg Advances, 2024
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Pasquetti D et al.
International Journal of Molecular Sciences, 2023
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.
Brooks DL et al.
American Journal of Human Genetics, 2023
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.
Tendi EA et al.
Biomedicines, 2023
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Cannet C et al.
Molecules (basel, Switzerland), 2023
Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing.
Brooks DL et al.
Nature Communications, 2023
RETRACTED: Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data.
Toncheva D et al.
Genes, 2023
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Rovelli V et al.
Endocrinology, Diabetes & Metabolism, 2023
Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with Phenylketonuria
Namdar Aligoodarzi P et al.
Iranian Biomedical Journal, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Zhou J et al.
Molecular Biology Reports, 2022