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
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 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
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.
Wang Q et al.
Orphanet Journal of Rare Diseases, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs.
Whittaker MN et al.
Nature Biomedical Engineering, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 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
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 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
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
The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria.
Nunes AJ et al.
Children (basel, Switzerland), 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
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 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
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.
Consentino MC et al.
Nutrients, 2025
Amelioration of metabolic and behavioral defects through base editing in the PahR408W phenylketonuria mouse model.
Yin S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.
Feillet F et al.
Journal of Inherited Metabolic Disease, 2025
Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling.
Gallardo V et al.
Frontiers in Genetics, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
Pinto A et al.
Nutrients, 2024
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Martínez-Pizarro A et al.
Human Molecular Genetics, 2024
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.
Zhang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024