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American journal of human genetics, ISSN 0002-9297, 2008, Volume 83, Issue 1, pp. 5 - 17
A significant share of patients with phenylalanine hydroxylase (PAH) deficiency benefits from pharmacological doses of tetrahydrobiopterin (BH 4), the natural... 
WILD-TYPE | EXPRESSION ANALYSIS | SUBSTRATE-BINDING | MILD PHENYLKETONURIA | STRUCTURAL BASIS | ACTIVE-SITE | GENETICS & HEREDITY | CATALYTIC DOMAIN | PKU MUTATIONS | HUMAN PHENYLALANINE-HYDROXYLASE | MISSENSE MUTATIONS | Phenylalanine Hydroxylase - genetics | Phenylketonurias - genetics | Allosteric Regulation | Humans | Luminescence | Phenylalanine Hydroxylase - deficiency | Male | Mutation, Missense | Biopterin - analogs & derivatives | Recombinant Fusion Proteins - metabolism | Biopterin - administration & dosage | Protein Subunits - metabolism | Biopterin - therapeutic use | Computer Simulation | Protein Denaturation | Female | Binding Sites | Dimerization | Endopeptidase K - pharmacology | Infant, Newborn | Phenylalanine Hydroxylase - metabolism | Amino Acid Sequence | Motion | Phenylketonurias - enzymology | Catalytic Domain | Phenylalanine - metabolism | Protein Structure, Secondary | Administration, Oral | Enzyme Stability | Models, Molecular | Protein Structure, Tertiary - genetics | Hot Temperature | Phenylalanine Hydroxylase - analysis | Recombinant Fusion Proteins - chemistry | Static Electricity | Protein Folding | Hydrolysis | Hydrogen Bonding | Amino Acid Metabolism, Inborn Errors | Hydrophobic and Hydrophilic Interactions | Phenylalanine - blood | Protein Conformation | Protein Subunits - chemistry | Kinetics | Phenylalanine Hydroxylase - chemistry | Amino Acid Substitution | Causes of | Phenylketonuria | Genetic aspects | Research | Gene mutations | Protein folding
Journal Article
Biochemistry (Easton), ISSN 0006-2960, 04/2011, Volume 50, Issue 14, pp. 2919 - 2930
Journal Article
Journal Article
Genetics in medicine, ISSN 1530-0366, 2018, Volume 21, Issue 8, pp. 1851 - 1867
Journal Article
PloS one, ISSN 1932-6203, 2017, Volume 12, Issue 3, pp. e0173269 - e0173269
Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic... 
FORMS | CLEARANCE | ENZYME-REACTORS | MANAGEMENT | POLYETHYLENE-GLYCOL | MULTIDISCIPLINARY SCIENCES | Recombinant Proteins - therapeutic use | Enzyme Replacement Therapy | Nostoc - enzymology | Enzyme-Linked Immunosorbent Assay | Anabaena - enzymology | Recombinant Proteins - chemistry | Polyethylene Glycols - chemistry | Recombinant Proteins - biosynthesis | Phenylalanine Ammonia-Lyase - chemistry | Petroselinum - enzymology | Recombinant Proteins - isolation & purification | Animals | Phenylalanine Ammonia-Lyase - therapeutic use | Phenylalanine Ammonia-Lyase - immunology | Phenylalanine Ammonia-Lyase - isolation & purification | Drug Compounding | Antibodies - blood | Mice | Phenylketonurias - pathology | Disease Models, Animal | Phenylketonurias - drug therapy | Phenylketonuria | Care and treatment | Research | Phenylalanine | Polyethylene glycol | Yeast | Phenylalanine 4-monooxygenase | Clinical trials | Biochemistry | Drug development | Optimization | Neurotoxicity | Enzymatic activity | E coli | Metabolites | Cyanobacteria | Medical research | Enzymes | Evaluation | Polyethylene | Effectiveness | Research & development--R&D | Hydroxylase | Pharmacology | Injection | Ammonia | Mutagenesis | Immunogenicity | Anabaena | Phenols | Molecular biology | Cancer | Pharmaceuticals | Index Medicus | Research & development | R&D
Journal Article