Phenylketonuria: a review of current and future treatments.
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[1] T. Niidome,et al. Gene Therapy Progress and Prospects: Nonviral vectors , 2002, Gene Therapy.
[2] M. Etzel,et al. Nutritional management of PKU with glycomacropeptide from cheese whey , 2009, Journal of Inherited Metabolic Disease.
[3] A. Boneh,et al. How practical are recommendations for dietary control in phenylketonuria? , 2002, The Lancet.
[4] K. Antshel. ADHD, learning, and academic performance in phenylketonuria. , 2010, Molecular genetics and metabolism.
[5] G. Schwartz,et al. Peak bone mass in patients with phenylketonuria , 2007, Journal of Inherited Metabolic Disease.
[6] M. Hill. Probiotics: the scientific basis , 1993 .
[7] K. Hansen,et al. Advances in the nutritional and pharmacological management of phenylketonuria , 2013, Current opinion in clinical nutrition and metabolic care.
[8] R. Moats,et al. Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: A preliminary review , 2004, Journal of Inherited Metabolic Disease.
[9] H. Berry,et al. Nutritional management in phenylketonuria. , 1971, American journal of diseases of children.
[10] G. Summer,et al. Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria. , 1978, The New England journal of medicine.
[11] C. Scriver. The hyperphenylalaninemia : phenylalanine hydroxylase deficiency , 2001 .
[12] J. Rey,et al. Atypical phenylketonuria with normal dihydropteridine reductase activity. , 1976, The New England journal of medicine.
[13] P. Renault,et al. Oral Treatment with Lactococcus lactis Expressing Staphylococcus hyicus Lipase Enhances Lipid Digestion in Pigs with Induced Pancreatic Insufficiency , 2002, Applied and Environmental Microbiology.
[14] J. Sergeant,et al. Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations , 2002, Neuropsychologia.
[15] A. Macdonald,et al. Nutrition in phenylketonuria. , 2011, Molecular genetics and metabolism.
[16] Mark A. Kay,et al. Progress and problems with the use of viral vectors for gene therapy , 2003, Nature Reviews Genetics.
[17] F. Torres,et al. Twelve years of clinical experience with phenylketonuria , 1969, Neurology.
[18] W. Turpin,et al. Lactobacilli as multifaceted probiotics with poorly disclosed molecular mechanisms. , 2010, International journal of food microbiology.
[19] M. Lindner,et al. Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia , 2007, Journal of Inherited Metabolic Disease.
[20] N. Blau,et al. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. , 2011, Molecular genetics and metabolism.
[21] T. Chang,et al. Artificial Cells Microencapsulated Genetically Engineered E. Coli DH 5 Cells for the Lowering of Plasma Creatinine In-Vitro and In-Vivo , 2000, Artificial cells, blood substitutes, and immobilization biotechnology.
[22] S. Waisbren,et al. Psychiatric symptoms and disorders in phenylketonuria. , 2010, Molecular genetics and metabolism.
[23] R. Koch,et al. Intellectual development in 12-year-old children treated for phenylketonuria. , 1991, American journal of diseases of children.
[24] R. Leer,et al. The potential of Lactobacillus as a carrier for oral immunization: development and preliminary characterization of vector systems for targeted delivery of antigens. , 1996, Journal of biotechnology.
[25] M. Crone,et al. Behavioural factors related to metabolic control in patients with phenylketonuria , 2005, Journal of Inherited Metabolic Disease.
[26] W. Fiers,et al. Treatment of murine colitis by Lactococcus lactis secreting interleukin-10. , 2000, Science.
[27] F. Shanahan,et al. Basic aspects and pharmacology of probiotics: an overview of pharmacokinetics, mechanisms of action and side-effects. , 2003, Best practice & research. Clinical gastroenterology.
[28] Raymond C Stevens,et al. Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria. , 2011, Molecular genetics and metabolism.
[29] E. Czeizel,et al. Sapropterin Review of its Use in the Treatment of Primary Hyperphenylalaninaemia , 2009 .
[30] N. Dragano,et al. Health and Quality of Life Outcomes Evaluation of Quality of Life and Description of the Sociodemographic State in Adolescent and Young Adult Patients with Phenylketonuria (pku) , 2022 .
[31] H. Curtius,et al. Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis. , 1978, Archives of disease in childhood.
[32] G. Schulz,et al. Phenylalanine ammonia-lyase modified with polyethylene glycol: Potential therapeutic agent for phenylketonuria , 2005, Amino Acids.
[33] Vos,et al. Genetic marking of Lactococcus lactis shows its survival in the human gastrointestinal tract , 1995, Applied and environmental microbiology.
[34] A. Roscher,et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. , 2002, The New England journal of medicine.
[35] A. Fox,et al. Meta-Analysis of Neuropsychological Symptoms of Adolescents and Adults with PKU , 2007, Neuropsychology Review.
[36] S. Garg,et al. Anticarcinogenic, hypocholesterolemic, and antagonistic activities of Lactobacillus acidophilus. , 1995, Critical reviews in microbiology.
[37] C. Harding,et al. Treatment of phenylketonuria using minicircle‐based naked‐DNA gene transfer to murine liver , 2014, Hepatology.
[38] R. Leer,et al. Lactic acid bacteria as antigen delivery vehicles for oral immunization purposes. , 1998, International journal of food microbiology.
[39] A. Macdonald,et al. Micronutrient status in phenylketonuria. , 2013, Molecular genetics and metabolism.
[40] N. Waitzman,et al. Living with phenylketonuria: Perspectives of patients and their families , 2005, Journal of Inherited Metabolic Disease.
[41] J. Ruiz,et al. Dietary Threonine Reduces Plasma Phenylalanine Levels in Patients With Hyperphenylalaninemia , 2003, Journal of pediatric gastroenterology and nutrition.
[42] S. Heymsfield,et al. Evaluation of specific metabolic rates of major organs and tissues: Comparison between men and women , 2011, American journal of human biology : the official journal of the Human Biology Council.
[43] R. Stevens,et al. Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria. , 2007, Molecular genetics and metabolism.
[44] K. Scheidhauer,et al. Decreased trabecular bone mineral density in patients with phenylketonuria measured by peripheral quantitative computed tomography , 1998, Acta paediatrica.
[45] S. Ahrné,et al. Alteration of intestinal microflora is associated with reduction in abdominal bloating and pain in patients with irritable bowel syndrome , 2000, American Journal of Gastroenterology.
[46] M Jason MacDonald,et al. A modern view of phenylalanine ammonia lyase. , 2007, Biochemistry and cell biology = Biochimie et biologie cellulaire.
[47] B. Burton,et al. Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU). , 2010, Molecular genetics and metabolism.
[48] M. Elmazar,et al. Oral delivery of insulin from enteric-coated capsules containing sodium salicylate: effect on relative hypoglycemia of diabetic beagle dogs. , 2002, International journal of pharmaceutics.
[49] M. Welsh,et al. Twenty-Five Years of Research on Neurocognitive Outcomes in Early-Treated Phenylketonuria: Intelligence and Executive Function , 2008, Developmental neuropsychology.
[50] Y. Matsubara,et al. Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene , 2004, Pediatric Research.
[51] N. Blau,et al. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. , 2004, Molecular genetics and metabolism.
[52] J. Hoskins,et al. The metabolism of cinnamic acid by healthy and phenylketonuric adults: a kinetic study. , 1984, Biomedical mass spectrometry.
[53] N. Blau,et al. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. , 2002, Molecular genetics and metabolism.
[54] M. Etzel,et al. Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. , 2009, The American journal of clinical nutrition.
[55] H. Lorberboum-Galski,et al. A Novel Approach for Enzyme Replacement Therapy , 2007, Journal of Biological Chemistry.
[56] J. Koukol,et al. The metabolism of aromatic compounds in higher plants. IV. Purification and properties of the phenylalanine deaminase of Hordeum vulgare. , 1961, The Journal of biological chemistry.
[57] Erik Remaut,et al. A phase I trial with transgenic bacteria expressing interleukin-10 in Crohn's disease. , 2006, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[58] J. Guest,et al. Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine-restricted diet. , 2013, Journal of intellectual disability research : JIDR.
[59] S. Cederbaum,et al. 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 , 2007, Journal of Inherited Metabolic Disease.
[60] B. Pennington,et al. Neuropsychology of early-treated phenylketonuria: specific executive function deficits. , 1990, Child development.
[61] R. Steiner,et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. , 2003, Journal of the American Dietetic Association.
[62] R. Koch,et al. Intake and Blood Levels of Fatty Acids in Treated Patients With Phenylketonuria , 2001, Journal of pediatric gastroenterology and nutrition.
[63] C Boesch,et al. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. , 1999, The Journal of clinical investigation.
[64] J. Loeber,et al. Neonatal screening in Europe; the situation in 2004 , 2007, Journal of Inherited Metabolic Disease.
[65] D. Ney,et al. Low Bone Strength Is a Manifestation of Phenylketonuria in Mice and Is Attenuated by a Glycomacropeptide Diet , 2012, PloS one.
[66] S. Christ,et al. Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. , 2014, Molecular genetics and metabolism.
[67] M. Tuite,et al. High-level expression of the phenylalanine ammonia lyase-encoding gene from Rhodosporidium toruloides in Saccharomyces cerevisiae and Escherichia coli using a bifunctional expression system. , 1994, Gene.
[68] B. Cash. Emerging role of probiotics and antimicrobials in the management of irritable bowel syndrome , 2014, Current medical research and opinion.
[69] Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. , 1993, Archives of disease in childhood.
[70] S. Jia,et al. Production of l-phenylalanine from trans-cinnamic acids by high-level expression of phenylalanine ammonia lyase gene from Rhodosporidium toruloides in Escherichia coli , 2008 .
[71] S. Kure,et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. , 1999, The Journal of pediatrics.
[72] R. Koch,et al. Collaborative study of children treated for phenylketonuria: study design. , 1977, Pediatrics.
[73] T. Chang,et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[74] R. Matalon,et al. Phenylketonuria: screening, treatment and maternal PKU. , 1991, Clinical biochemistry.
[75] A. Miyoshi,et al. Oral administration of a catalase-producing Lactococcus lactis can prevent a chemically induced colon cancer in mice. , 2008, Journal of medical microbiology.
[76] J. Burnett. Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. , 2007, IDrugs : the investigational drugs journal.
[77] H. Yoshikawa,et al. Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self‐complementary adeno‐associated virus vector , 2011, The journal of gene medicine.
[78] R. Koch,et al. Blood phenylalanine levels and intelligence of 10-year-old children with PKU in the National Collaborative Study. , 1988, Journal of the American Dietetic Association.
[79] R. Stevens,et al. Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria , 2008, Proceedings of the National Academy of Sciences.
[80] L. Elsas,et al. Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors , 2004, Genetics in Medicine.
[81] S. Pueschel,et al. Intelligence and phenylketonuria: effects of diet termination. , 1979, The Journal of pediatrics.
[82] S. Channon,et al. Executive functioning and speed of processing in phenylketonuria. , 2005, Neuropsychology.
[83] J. Rocha,et al. Large neutral amino acids supplementation in phenylketonuric patients , 2009, Journal of Inherited Metabolic Disease.
[84] R. Stevens,et al. Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria. , 2005, Molecular genetics and metabolism.
[85] R. Moats,et al. Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. , 2003, Molecular genetics and metabolism.
[86] C. Sarkar,et al. Nisin‐inducible secretion of a biologically active single‐chain insulin analog by Lactococcus lactis NZ9000 , 2011, Biotechnology and bioengineering.
[87] G. Schulz,et al. Overexpression of a designed 2.2 kb gene of eukaryotic phenylalanine ammonia‐lyase in Escherichia coli , 1999, FEBS letters.
[88] A. D’mello,et al. Strategies to maximize the encapsulation efficiency of phenylalanine ammonia lyase in microcapsules. , 2008, International journal of pharmaceutics.
[89] M. Lindstrom,et al. Regional expression and dietary regulation of rat small intestinal peptide and amino acid transporter mRNAs. , 1995, Biochemical and biophysical research communications.
[90] D. Ney,et al. Acceptable low-phenylalanine foods and beverages can be made with glycomacropeptide from cheese whey for individuals with PKU. , 2007, Molecular genetics and metabolism.
[91] L. Steidler. Genetically engineered probiotics. , 2003, Best practice & research. Clinical gastroenterology.
[92] S. Christ,et al. Executive function in early-treated phenylketonuria: profile and underlying mechanisms. , 2010, Molecular genetics and metabolism.
[93] M. Etzel,et al. Manufacture and use of dairy protein fractions. , 2004, The Journal of nutrition.
[94] R. Kronmal,et al. Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. , 1986, The New England journal of medicine.
[95] P. Brigidi,et al. Impact on the composition of the faecal flora by a new probiotic preparation: preliminary data on maintenance treatment of patients with ulcerative colitis , 1999, Alimentary pharmacology & therapeutics.
[96] S. Woo,et al. Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer. , 1994, Gene therapy.
[97] J. Walter,et al. Blood phenylalanine control in adolescents with phenylketonuria , 2004, International journal of adolescent medicine and health.
[98] C. Harding,et al. State-of-the-art 2003 on PKU gene therapy. , 2004, Molecular genetics and metabolism.
[99] J. Vockley,et al. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. , 2009, The Journal of pediatrics.
[100] R. Matalon,et al. Large neutral amino acids in the treatment of phenylketonuria (PKU) , 2006, Journal of Inherited Metabolic Disease.
[101] M. Blaskovics,et al. Phenylketonuria and its variations. A review of recent developments. , 1971, California medicine.
[102] T. Chang,et al. Microencapsulated genetically engineered live E. coli DH5 cells administered orally to maintain normal plasma urea level in uremic rats , 1996, Nature Medicine.
[103] J. Balcázar,et al. Changes in intestinal microbiota and humoral immune response following probiotic administration in brown trout (Salmo trutta) , 2007, British Journal of Nutrition.
[104] N. Longo. Disorders of biopterin metabolism , 2009, Journal of Inherited Metabolic Disease.
[105] C. Hollak,et al. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial , 2010, Journal of Inherited Metabolic Disease.
[106] Yan-jun Ma,et al. Oral Administration of Recombinant Lactococcus lactis Expressing HSP65 and Tandemly Repeated P277 Reduces the Incidence of Type I Diabetes in Non-Obese Diabetic Mice , 2014, PloS one.
[107] H. Mizukami,et al. Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice , 2004, Gene Therapy.
[108] F. Hudson. Termination of dietary treatment of phenylketonuria. , 1967, Archives of disease in childhood.
[109] R. Artuch,et al. Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. , 2005, Molecular genetics and metabolism.
[110] R. Matalon,et al. Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine , 2007, Journal of Inherited Metabolic Disease.
[111] J. Christodoulou,et al. Phenylketonuria: translating research into novel therapies. , 2014, Translational pediatrics.
[112] C. Abell,et al. Phenylalanine ammonia-lyase. Induction and purification from yeast and clearance in mammals. , 1976, The Journal of biological chemistry.
[113] J. Gerrard,et al. The Influence of Phenylalanine Intake on the Chemistry and Behaviour of a Phenylketonuria Child , 1954, Acta paediatrica.
[114] G. Enns,et al. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. , 2010, Molecular genetics and metabolism.
[115] N. Blau,et al. Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. , 2005, Molecular genetics and metabolism.
[116] J. Hoskins,et al. Phenylalanine ammonia lyase in the management of phenylketonuria: the relationship between ingested cinnamate and urinary hippurate in humans. , 1982, Research communications in chemical pathology and pharmacology.
[117] J. Christodoulou,et al. The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. , 2007, Molecular genetics and metabolism.
[118] P. Renault,et al. Survival, Physiology, and Lysis ofLactococcus lactis in the Digestive Tract , 1999, Applied and Environmental Microbiology.
[119] J. Sergeant,et al. The neuropsychological profile of early and continuously treated phenylketonuria: orienting, vigilance, and maintenance versus manipulation-functions of working memory , 2002, Neuroscience & Biobehavioral Reviews.
[120] G. Enns,et al. Future treatment strategies in phenylketonuria. , 2010, Molecular genetics and metabolism.
[121] R. Stevens,et al. Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.
[122] J. Hoskins,et al. ENZYMATIC CONTROL OF PHENYLALANINE INTAKE IN PHENYLKETONURIA , 1980, The Lancet.
[123] D. Awiszus,et al. Coping with PKU: results of narrative interviews with parents , 2005, European Journal of Pediatrics.
[124] B. Burton,et al. Phenylketonuria in adulthood: A collaborative study , 2002, Journal of Inherited Metabolic Disease.
[125] Jing-zhong Liu,et al. STUDY ON A NOVEL STRATEGY TO TREATMENT OF PHENYLKETONURIA , 2002, Artificial cells, blood substitutes, and immobilization biotechnology.
[126] S. Channon,et al. Executive functioning, memory, and learning in phenylketonuria. , 2004, Neuropsychology.
[127] G. Pampiglione,et al. Biochemical and EEG studies in phenylketonuric children during phenylalanine tolerance testc. , 1966, Archives of disease in childhood.
[128] Dunn,et al. Biomodulation of the toxic and nutritional effects of small bowel bacterial overgrowth in end-stage kidney disease using freeze-dried Lactobacillus acidophilus. , 1996, Mineral and electrolyte metabolism.
[129] R A Kronmal,et al. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. , 1999, Pediatrics.
[130] H. Sidhu,et al. Rapid reversal of hyperoxaluria in a rat model after probiotic administration of Oxalobacter formigenes. , 2001, The Journal of urology.