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Development of an mRNA replacement therapy for phenylketonuria: Molecular Therapy - Nucleic Acids
Development of an mRNA replacement therapy for phenylketonuria: Molecular Therapy - Nucleic Acids

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China | Scientific Reports
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China | Scientific Reports

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase | Nature Communications
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase | Nature Communications

Identification and analysis of two novel PAH missense mutations... | Download Scientific Diagram
Identification and analysis of two novel PAH missense mutations... | Download Scientific Diagram

Identification of the missense mutation in exon 12 of the human PAH... | Download Scientific Diagram
Identification of the missense mutation in exon 12 of the human PAH... | Download Scientific Diagram

The pathogenicity classification of PAH gene variants in the Iranian population - ScienceDirect
The pathogenicity classification of PAH gene variants in the Iranian population - ScienceDirect

Mutation analysis in hyperphenylalaninemia patients from South Italy - ScienceDirect
Mutation analysis in hyperphenylalaninemia patients from South Italy - ScienceDirect

Distributions of the PAH gene mutations in three minority nationality... | Download Table
Distributions of the PAH gene mutations in three minority nationality... | Download Table

Occurrence rate of mutations in the PAH gene | Download Table
Occurrence rate of mutations in the PAH gene | Download Table

Schematic representation of the PAH gene with the location of the 33... | Download Scientific Diagram
Schematic representation of the PAH gene with the location of the 33... | Download Scientific Diagram

Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text
Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text

Splice-Site mutations in PKU
Splice-Site mutations in PKU

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics

Biomedicines | Free Full-Text | Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
Biomedicines | Free Full-Text | Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study - eBioMedicine
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study - eBioMedicine

IJMS | Free Full-Text | Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia
IJMS | Free Full-Text | Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia

Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants | Scientific Reports
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants | Scientific Reports

Protein network interactions contained the PAH and 10 related genes... | Download Scientific Diagram
Protein network interactions contained the PAH and 10 related genes... | Download Scientific Diagram

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study | Pediatric Research
Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study | Pediatric Research

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics

Genes | Free Full-Text | An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations
Genes | Free Full-Text | An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations

Genes | Free Full-Text | Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients
Genes | Free Full-Text | Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

PDF] Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report | Semantic Scholar
PDF] Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report | Semantic Scholar

PAH Gene - GeneCards | PH4H Protein | PH4H Antibody
PAH Gene - GeneCards | PH4H Protein | PH4H Antibody

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants | Metabolic Brain Disease
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants | Metabolic Brain Disease