Associated Papers
Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria.
Kitayama K et al.
Journal of Inherited Metabolic Disease, 2026
Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.
Karaca M et al.
Human Genomics, 2026
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 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
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.
Wang Q et al.
Orphanet Journal of Rare Diseases, 2025
A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency.
Peker A et al.
Molecular Syndromology, 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
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring.
Lo Bianco M et al.
Nutrients, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Balci MC et al.
Orphanet Journal of Rare Diseases, 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
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 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
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
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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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
An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.
Tuncel G et al.
International Journal of Genomics, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 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
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
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
Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.
Aguirre AS et al.
Bmc Pediatrics, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.
Zhu J et al.
Prenatal Diagnosis, 2024
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.
Alavanda C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Martínez-Pizarro A et al.
Human Molecular Genetics, 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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients.
Bugi MA et al.
Nutrients, 2024
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.
Upadia J et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024