Associated Papers
Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.
Karaca M et al.
Human Genomics, 2026
Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.
Bik-Multanowski M et al.
Scientific Reports, 2025
Rethinking Phenylketonuria as an Euphenic Metabolic Disorder.
Porta F et al.
Acta Paediatrica (oslo, Norway : 1992), 2025
Personalized Genotype-Based Approach for Treatment of Phenylketonuria.
Gundorova P et al.
Journal of Inherited Metabolic 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
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
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
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
First successful outcomes of pegvaliase (PALYNZIQ) in children.
Alfadhel M et al.
Bmc Medical Genomics, 2024
Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients.
Bugi MA et al.
Nutrients, 2024
Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria.
Khan SM et al.
Lifestyle Genomics, 2024
Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.
Jalali H et al.
International Journal of Preventive Medicine, 2024
A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria.
Rahimzadeh A et al.
Advanced Biomedical Research, 2024
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
Bonfim-Freitas PE et al.
Molecular Genetics & Genomic Medicine, 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
Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.
Yu X et al.
Discovery Medicine, 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
Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.
Theron M et al.
Scientific Reports, 2023
Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
Balobaid A et al.
Genetic Testing and Molecular Biomarkers, 2023
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
Ghanei M et al.
Human Heredity, 2023
Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.
Zeng B et al.
Frontiers in Genetics, 2023
The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine.
Fishchuk L et al.
Molecular Genetics and Metabolism Reports, 2022
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M et al.
Genes, 2021
Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients.
Teruya KI et al.
American Journal of Medical Genetics. Part A, 2021
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R et al.
Metabolic Brain Disease, 2021
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.
Odagiri S et al.
International Journal of Neonatal Screening, 2021
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F et al.
Molecular Genetics & Genomic Medicine, 2021
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 2021
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Tresbach RH et al.
Genes, 2020
Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.
Koshiba S et al.
Communications Biology, 2020
PREVALENCE OF PAH MUTATIONS IN GEORGIAN PKU PATIENTS COMPARED TO MOST FREQUENT PAH MUTATIONS IN EUROPEAN POPULATIONS.
Agladze D et al.
Georgian Medical News, 2020
Neonatal phenylalanine wash-out in phenylketonuria.
Porta F et al.
Metabolic Brain Disease, 2020
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.
Cannet C et al.
Orphanet Journal of Rare Diseases, 2020
IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.
Costa RD et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2020
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019