| scholarly article | Q13442814 |
| review article | Q7318358 |
| P2093 | author name string | Christodoulou J | |
| Ho G | |||
| P2860 | cites work | The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study | Q44957001 |
| Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations | Q45087065 | ||
| Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype | Q45089579 | ||
| Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia | Q45158289 | ||
| Tetrahydrobiopterin responsiveness in patients with phenylketonuria. | Q45181587 | ||
| In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings | Q45345330 | ||
| Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector | Q45369054 | ||
| Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer | Q45422040 | ||
| Does dietary DHA improve neural function in children? Observations in phenylketonuria. | Q45926160 | ||
| Response of patients with phenylketonuria in the US to tetrahydrobiopterin. | Q45990026 | ||
| Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. | Q46036991 | ||
| Effect of BH(4) supplementation on phenylalanine tolerance | Q46208033 | ||
| Quality of life in noncompliant adults with phenylketonuria after resumption of the diet | Q46290646 | ||
| Long-term compliance with a novel vitamin and mineral supplement in older people with PKU. | Q46304638 | ||
| Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population | Q46578404 | ||
| Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria | Q46624360 | ||
| Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience | Q46642821 | ||
| Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients | Q46730642 | ||
| Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency | Q46952232 | ||
| Phenylketonuria and the peoples of Northern Ireland | Q47783840 | ||
| Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation | Q47837284 | ||
| The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study | Q48237362 | ||
| School performance in early and continuously treated phenylketonuria | Q48472932 | ||
| Behaviour and school achievement in patients with early and continuously treated phenylketonuria | Q48699498 | ||
| Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. | Q50544679 | ||
| Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria. | Q50982765 | ||
| Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction. | Q52268779 | ||
| In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations. | Q53874536 | ||
| Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis. | Q54458625 | ||
| Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria | Q55062488 | ||
| A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program | Q55670735 | ||
| Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation | Q57304659 | ||
| The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency | Q59697131 | ||
| Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe | Q64004926 | ||
| Enzyme replacement therapy in ENU2 phenylketonuric mice using oral microencapsulated phenylalanine ammonia-lyase: a preliminary report | Q70885890 | ||
| Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations | Q70992845 | ||
| Vitamin B12 deficiency in adolescents and young adults with phenylketonuria | Q71583718 | ||
| Decreased bone mineral density in children with phenylketonuria | Q72779909 | ||
| Influence of phenylalanine intake on phenylketonuria | Q73301405 | ||
| Mutation analysis of phenylketonuria in Yamagata prefecture, Japan | Q73511395 | ||
| Vitamin B12 deficiency in an adult phenylketonuric patient | Q73614097 | ||
| Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet | Q73641271 | ||
| Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency | Q78254430 | ||
| Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase | Q80135949 | ||
| Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial | Q80152638 | ||
| Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria | Q80366170 | ||
| The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment | Q80551911 | ||
| Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages | Q82210201 | ||
| Adherence to diet and quality of life in patients with phenylketonuria | Q83461470 | ||
| Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria | Q83568136 | ||
| Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients | Q84225923 | ||
| The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration | Q85089477 | ||
| Phenylketonuria | Q85246863 | ||
| Gene transfer and expression of human phenylalanine hydroxylase | Q24299997 | ||
| Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland | Q24518394 | ||
| Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia | Q24535755 | ||
| Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria | Q24563321 | ||
| Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism | Q24670476 | ||
| Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase | Q24672904 | ||
| Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency | Q24676821 | ||
| A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS | Q28191062 | ||
| Suppressive effects of 4-phenylbutyrate on the aggregation of Pael receptors and endoplasmic reticulum stress | Q28302176 | ||
| Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene. | Q30351719 | ||
| In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation | Q31851013 | ||
| Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. | Q33617709 | ||
| Health benefits of docosahexaenoic acid (DHA) | Q33729754 | ||
| The structural basis of phenylketonuria | Q33754934 | ||
| Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria | Q33832790 | ||
| Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice | Q33871190 | ||
| Newborn PKU screening in Turkey: at present and organization for future | Q33953364 | ||
| PTC124 targets genetic disorders caused by nonsense mutations | Q34003720 | ||
| Behaviour in early treated phenylketonuria: a systematic review | Q34067112 | ||
| Novel pharmacological chaperones that correct phenylketonuria in mice. | Q34127906 | ||
| Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence | Q34129208 | ||
| How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression | Q34185859 | ||
| A new cofactor required for the enzymatic conversion of phenylalanine to tyrosine | Q34243369 | ||
| The molecular basis of phenylketonuria in Koreans | Q34361713 | ||
| A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype | Q34386181 | ||
| Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide diet | Q34428243 | ||
| Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now? | Q34451232 | ||
| In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function | Q34454751 | ||
| PAHdb 2003: what a locus-specific knowledgebase can do. | Q35091565 | ||
| Phenylketonuria mutations in Europe | Q35091570 | ||
| Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria | Q35490408 | ||
| Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations | Q41889461 | ||
| Large neutral amino acids in the treatment of phenylketonuria (PKU). | Q42598809 | ||
| Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine | Q42613543 | ||
| BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up | Q42860766 | ||
| Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU). | Q42967337 | ||
| Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations | Q43090159 | ||
| Polyol additives modulate the in vitro stability and activity of recombinant human phenylalanine hydroxylase | Q43235998 | ||
| A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. | Q43680715 | ||
| Molecular basis of phenylketonuria in Cuba | Q43721448 | ||
| In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria | Q43741314 | ||
| PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis | Q43799565 | ||
| Mental illness in mild PKU responds to biopterin | Q43932775 | ||
| Chronic kidney disease in adolescent and adult patients with phenylketonuria | Q43963992 | ||
| Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal | Q44007659 | ||
| Phenylketonuria in adulthood: a collaborative study | Q44199167 | ||
| High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. | Q44240184 | ||
| Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria | Q44261803 | ||
| Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene. | Q44287761 | ||
| Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania | Q44364306 | ||
| Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus | Q44375034 | ||
| Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment | Q44479796 | ||
| Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation | Q44727699 | ||
| Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet? | Q44769279 | ||
| The Maternal Phenylketonuria International Study: 1984-2002. | Q35599969 | ||
| A long-term study of bone mineral density in patients with phenylketonuria under diet therapy. | Q35674122 | ||
| Glycomacropeptide, a low-phenylalanine protein isolated from cheese whey, supports growth and attenuates metabolic stress in the murine model of phenylketonuria | Q35900593 | ||
| Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease | Q35915771 | ||
| Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino Acid-based medical foods for nutrition management of phenylketonuria | Q36110718 | ||
| Effects of dietary management of phenylketonuria on long-term cognitive outcome | Q36154575 | ||
| Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase | Q36423199 | ||
| Protein misfolding disorders: pathogenesis and intervention | Q36501365 | ||
| Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). | Q36579169 | ||
| Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria | Q36740296 | ||
| Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria | Q36985102 | ||
| The roles of long-chain polyunsaturated fatty acids in pregnancy, lactation and infancy: review of current knowledge and consensus recommendations | Q37053819 | ||
| Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria | Q37081629 | ||
| Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system | Q37221688 | ||
| Nonaminoglycoside compounds induce readthrough of nonsense mutations | Q37377461 | ||
| Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. | Q37390118 | ||
| Large neutral amino acids supplementation in phenylketonuric patients. | Q37479304 | ||
| Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria | Q37480507 | ||
| Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle | Q37691307 | ||
| Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations | Q37695699 | ||
| The reality of dietary compliance in the management of phenylketonuria | Q37725745 | ||
| Therapeutic liver repopulation for phenylketonuria | Q37760081 | ||
| Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit | Q37912800 | ||
| The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones | Q37922933 | ||
| Nutrition in phenylketonuria | Q37938086 | ||
| Adult phenylketonuria outcome and management | Q37938198 | ||
| Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development. | Q37948373 | ||
| Follow up of phenylketonuria patients | Q37948374 | ||
| Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy | Q38318433 | ||
| Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU). | Q39190570 | ||
| Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. | Q40001669 | ||
| Chemical chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation | Q40108203 | ||
| Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene | Q40120264 | ||
| Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. | Q40226793 | ||
| Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells | Q40311080 | ||
| Phenylketonuria mutations in Northern China | Q40376793 | ||
| The hyperphenylalaninemias of man and mouse | Q40613964 | ||
| Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. | Q40661598 | ||
| Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study | Q40803288 | ||
| The metabolism of cinnamic acid by healthy and phenylketonuric adults: a kinetic study | Q41428787 | ||
| The effect of proteinases on phenylalanine ammonia-lyase from the yeast Rhodotorula glutinis | Q41825590 | ||
| The isolation and properties of phenylalanine hydroxylase from human liver | Q41878555 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | phenylketonuria | Q194041 |
| P304 | page(s) | 49-62 | |
| P577 | publication date | 2014-04-01 | |
| P1433 | published in | Translational pediatrics | Q27727078 |
| P1476 | title | Phenylketonuria: translating research into novel therapies | |
| P478 | volume | 3 |
| Q89779066 | IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO |
| Q92432715 | PLASMA PHENYLALANINE DETERMINATION BY QUANTITATIVE DENSITOMETRY OF THIN LAYER CHROMATOGRAMS AND BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN RELATION WITH MODERN MANAGEMENT OF PHENYLKETONURIA |
| Q26770291 | Phenylketonuria: a review of current and future treatments |
| Q90268037 | Tunable Coffee Ring Formation on Polycarbonate Nanofiber Film for Sensitive SERS Detection of Phenylalanine in Urine |
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