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
Developing iPSC models from phenylketonuria patients with varying PAH gene mutations.
Veleva D et al.
Stem Cell Research, 2026
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice.
Lundkvist P et al.
Jimd Reports, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 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
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Personalized Genotype-Based Approach for Treatment of Phenylketonuria.
Gundorova P et al.
Journal of Inherited Metabolic Disease, 2025
Adult-Onset Ataxia and Tremor as a Manifestation of Undiagnosed Phenylketonuria.
Garcia-Campos C et al.
Movement Disorders Clinical Practice, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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 landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria.
Khan SM et al.
Lifestyle Genomics, 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
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.
Zhou D et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
New challenges in management of phenylketonuria in pregnancy: a case report.
Ugalde-Abiega B et al.
Journal of Medical Case Reports, 2023
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
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
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Cold Spring Harbor Molecular Case Studies, 2023
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
Zhang C et al.
Orphanet Journal of Rare Diseases, 2023
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
Fang Y et al.
Human Genomics, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants.
Zhang W et al.
Genetic Testing and Molecular Biomarkers, 2022
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
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.
Sarodaya N et al.
Scientific Reports, 2022
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.
Peng D et al.
Bmc Medical Genomics, 2021
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
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
Mapping the miRNA-mRNA Interactome in Human Hepatocytes and Identification of Functional mirSNPs in Pharmacogenes.
Powell NR et al.
Clinical Pharmacology and Therapeutics, 2021
A joint method for the screening of pharmacological chaperones for phenylalanine hydroxylase.
Zhang Z et al.
Organic & Biomolecular Chemistry, 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
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R et al.
Metabolic Brain Disease, 2021
Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.
Xiao Y et al.
Chinese Medical Journal, 2021