Genomes and Genes
Summary: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
Publications300 found, 100 shown here
- PhenylketonuriaNenad Blau
Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
Lancet 376:1417-27. 2010..Possible future treatments include enzyme substitution with phenylalanine ammonia lyase, which degrades phenylalanine, and gene therapy to restore phenylalanine hydroxylase activity...
- Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficienciesNenad Blau
University Children s Hospital, Zurich, Switzerland
Mol Genet Metab 104:S2-9. 2011..The rate of Phe metabolic disposal after Phe challenge may be an additional useful tool in the interpretation of phenotype-genotype correlation...
- Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?R Gassió
PKU Follow up Unit, Department of Neurology, Hospital Sant Joan de Deu, Universitat de Barcelona, Spain
Acta Paediatr 92:1474-8. 2003..To evaluate the possible influence of dietary treatment on the quality of life of adult patients with PKU (phenylketonuria) following late introduction or resumption of a Phe-restricted diet...
- Psychosocial aspects of PKU: hidden disabilities--a reviewJ K Gentile
Medical Coping Clinic, Department of Psychiatry, 11S Medical Intensive Care Unit, Children s Hospital, Boston, MA 02115, USA
Mol Genet Metab 99:S64-7. 2010..PKU is a disorder in which a less than optimal psychosocial outcome arises from the cumulative impact of relatively mild symptoms. The key to reducing risks associated with PKU is metabolic control throughout life...
- Living with phenylketonuria: perspectives of patients and their familiesC Bilginsoy
Department of Economics, University of Utah, Salt Lake City, Utah 84112, USA
J Inherit Metab Dis 28:639-49. 2005....
- Consequences of variations in genes that affect dopamine in prefrontal cortexAdele Diamond
Department of Psychiatry, University of British Columbia, BC Children s Hospital, Vancouver, Canada
Cereb Cortex 17:i161-70. 2007..These sound quite disparate but they all grew systematically out the base laid down by Patricia Goldman-Rakic...
- Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidenceG M Enns
Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305 5208, USA
Mol Genet Metab 101:99-109. 2010....
- Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuriaAngel L Pey
Department of Biomedicine, University of Bergen, Bergen, Norway
J Clin Invest 118:2858-67. 2008..Furthermore, PAH activity in mouse liver increased after a 12-day oral administration of low doses of compounds III and IV. Thus, we have identified 2 small molecules that may represent promising alternatives in the treatment of PKU...
- Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrationsS C J Huijbregts
Department of Clinical Neuropsychology, Vrije Universiteit Amsterdam, Van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands
Neuropsychologia 40:7-15. 2002..We suggest that phe levels should be maintained under 360 micromol/l until approximately age 12, when development of attentional control approaches an adult level...
- Birth prevalence rates of newborn screening disorders in relation to screening practices in the United StatesVicki S Hertzberg
Emory University, Rollins School of Public Health, Department of Biostatistics, Atlanta, GA, USA
J Pediatr 159:555-60. 2011....
- Structural basis of autoregulation of phenylalanine hydroxylaseB Kobe
St Vincent s Institute of Medical Research, Fitzroy, Victoria, Australia
Nat Struct Biol 6:442-8. 1999....
- Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKUF J van Spronsen
Department of Pediatrics, Beatrix Children s Hospital, and Center for Liver, Digestive and Metabolic Diseases, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands
J Inherit Metab Dis 32:27-31. 2009..So far, little is known about the course of Phe tolerance or the ability of both pre-treatment Phe and Phe tolerance at early age to predict Phe tolerance at later age...
- Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of lifeB Ziesch
University Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany
J Inherit Metab Dis 35:983-92. 2012..Tetrahydrobiopterin (BH(4))-sensitive phenylketonuria (PKU) can be treated with sapropterin dihydrochloride. We studied metabolic control and health-related quality of life (HRQoL) in PKU patients treated with BH(4)...
- Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an exampleKathryn M Camp
Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 107:3-9. 2012..Throughout the paper, we use the nutritional treatment of phenylketonuria as an example of IEM treatment...
- Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative studyVincenzo Di Ciommo
Unit of Epidemiology, Department of Medical Directorate, Bambino Gesu Children s Hospital, Rome, Italy
J Dev Behav Pediatr 33:229-35. 2012....
- Inhibitory control in children with phenylketonuriaShawn E Christ
Department of Psychological Sciences, University of Missouri Columbia, Department of Psychology, Washington University, St Louis, MO 65211, USA
Dev Neuropsychol 30:845-64. 2006..Findings suggest that the inhibitory deficit associated with PKU is subtle and that inconsistent findings in past studies may be largely due to the insensitivity of experimental manipulations in some tasks...
- Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normalMarkus A Landolt
Division of Psychosomatics and Psychiatry, University Children s Hospital, Zurich, Switzerland
J Pediatr 140:516-21. 2002..To assess quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria (PKU)...
- Novel pharmacological chaperones that correct phenylketonuria in miceSandra Santos-Sierra
Sections of Biochemical and Clinical Pharmacology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, 6020 Innsbruck, Austria
Hum Mol Genet 21:1877-87. 2012..Notably, benzylhydantoin was twice as effective as tetrahydrobiopterin. In conclusion, we identified two PCs with high in vivo efficacy that may be further developed into a more effective drug treatment of PKU...
- Outcomes beyond phenylalanine: an international perspectiveFrancois Feillet
Reference Centre for Inborn Errors of Metabolism, Inserm U954, Department of Pediatrics, Children s Hospital of Nancy, Allee du Morvan, Vandoeuvre les Nancy 54500, France
Mol Genet Metab 99:S79-85. 2010..The objective is to emphasize that management of PKU goes well beyond addressing the biochemical nature of this disease in order to achieve optimal patient outcomes...
- Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuriaRani H Singh
Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30033, USA
Mol Genet Metab 104:485-91. 2011..Diet liberalization is an essential component of BH(4)-responsiveness classification...
- Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of lifeAmber E Ten Hoedt
Department of Pediatrics H7 270, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
J Inherit Metab Dis 34:391-8. 2011..The insight that emotional support and loss of friendship influence the HRQoL of the parents enables treating physicians to provide better support for these parents...
- Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary reviewV L Brumm
CHLA Division of Neurology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS 82, Los Angeles, CA 90027, USA
J Inherit Metab Dis 27:549-66. 2004..Future longitudinal investigation with a larger sample size will assist in clarifying the aetiology of neuropsychological deficits and association with treatment history...
- Adherence to diet and quality of life in patients with phenylketonuriaG Cotugno
Division of Metabolic Diseases, Bambino Gesu Children s Hospital, Rome, Italy
Acta Paediatr 100:1144-9. 2011..To investigate adherence to dietary treatment and quality of life (QoL) in patients with phenylketonuria (PKU)...
- Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutationsAngel L Pey
Centro de Biologia Molecular Severo Ochoa, CSIC Universidad Autonoma de Madrid, Madrid, Spain
Hum Mutat 24:388-99. 2004..Both effects of BH4 on PAH, i.e., the chemical chaperone effect preventing protein misfolding and the protection from inactivation, may be relevant mechanisms of the responsive phenotype...
- Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compoundsCátia Nascimento
Metabolism and Genetics Group, iMed UL, Faculdade Farmácia da Universidade de Lisboa, Av Prof Gama Pinto, 1649 003 Lisbon, Portugal
Protein J 27:392-400. 2008..Coli molecular chaperones we postulate that glycerol and TMAO rescue results from a direct stabilizing effect of the newly synthesized mutant hPAH enzymes...
- Behaviour and school achievement in patients with early and continuously treated phenylketonuriaB A Stemerdink
Department of Developmental, State University Groningen, The Netherlands
J Inherit Metab Dis 23:548-62. 2000..More specifically, school achievement as well as social and task-oriented behaviour (at home..
- The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuriaSimona Cabib
Dipartimento di Psicologia, Universita La Sapienza, Via dei Marsi 78, Rome 1 00195, Italy
Behav Genet 33:301-10. 2003..These results indicate that Pah(enu2) mice show pathological cognitive deficits and support their use to test hypotheses about neurodevelopmental disturbances involved in mental retardation...
- Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997P Burgard
Fachrichtung Psychologie, Universitat des Saarlandes, Im Stadtwald, Saarbrucken, Germany
Eur J Pediatr 158:46-54. 1999....
- Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acidsSandra C van Calcar
Waisman Center, University of Wisconsin, Madison, WI 53706, USA
Am J Clin Nutr 89:1068-77. 2009..Glycomacropeptide (GMP), an intact protein formed during cheese production, contains minimal phenylalanine...
- Phenylalanine hydroxylase deficiencyJohn J Mitchell
Department of Medical Genetics, McGill University Health Center, Montreal, Canada
Genet Med 13:697-707. 2011..Molecular genetic testing of the phenylalanine hydroxylase gene is available for genetic counseling purposes to determine carrier status of at-risk relatives and for prenatal testing...
- Purification and use of glycomacropeptide for nutritional management of phenylketonuriaCaitlin E Laclair
Dept of Food Science, Univ of Wisconsin, Madison, WI 53706, USA
J Food Sci 74:E199-206. 2009..Nutritionally complete GMP foods created with high purity GMP provide individuals with PKU with more options to manage PKU, which may lead to improved compliance and quality of life...
- Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of PhenylketonuriaChristineh N Sarkissian
Departments of Biology, Human Genetics and Pediatrics, McGill University, and Debelle Laboratory, McGill University Montreal Children s Hospital Research Institute, 2300 Tupper Street, A 717, Montreal, QC, H3H 1P3 Canada
Mol Genet Metab 104:249-54. 2011....
- Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuriaF Fusetti
Department of Chemistry, University of California and Physical Biosciences Division, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
J Biol Chem 273:16962-7. 1998..Their effects on the structural and cellular stability of the enzyme are discussed...
- Pathologic and immunohistochemical findings in hypothalamic and mesencephalic regions in the pah(enu2) mouse model for phenylketonuriaJennifer E Embury
Department of Biochemistry and Molecular Biology, College of Medicine, University of Florida, Gainesville, Florida 32610, USA
Pediatr Res 58:283-7. 2005..The CD11b-positive cells and increased inducible nitric oxide synthase expression in these regions may function in a neuroregulatory manner to compensate for alterations in dopamine metabolism...
- Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysisSusan E Waisbren
Children s Hospital Boston, 1 Autumn Street, Room 525, Boston, MA 02115, USA
Mol Genet Metab 92:63-70. 2007..In conclusion, these results confirm a significant correlation between blood Phe level and IQ in patients with PKU, and support the use of Phe as a predictive biomarker for IQ in clinical trials...
- Motor function under lower and higher controlled processing demands in early and continuously treated phenylketonuriaS C J Huijbregts
Department of Clinical Neuropsychology, Vrije Universiteit Amsterdam, The Netherlands
Neuropsychology 17:369-79. 2003..Correlations with historical phenylalanine levels indicated a later maturation of the level of control required by the pursuit task compared with the tracking task...
- Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imagingPeter Vermathen
Department Clinical Research, Unit for MR Spectroscopy and Methodology, University Berne, Bern, Switzerland
Magn Reson Med 58:1145-56. 2007..Intramyelinic edema combined with vacuolization is a likely cause of the WM alterations. Correlations between diffusivity and Phe concentrations confirm vulnerability of WM to high Phe concentrations...
- Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive functionKathryn DeRoche
Department of Applied Statistics and Research Methods, University of Northern Colorado, Greeley, CO 80639, USA
Dev Neuropsychol 33:474-504. 2008..The results are discussed in terms of the contributions this meta-analysis makes to our understanding of neurocognitive outcomes in early-treated PKU, as well as suggestions for the conduct and reporting of future research in this area...
- Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysisJulia Albrecht
Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 430, D 69120 Heidelberg, Germany
Neurosci Biobehav Rev 33:414-21. 2009..The same effect size is predicted for adult phenylalanine concentrations between 750 and 1500mumol/L not suggesting a preference for any of the published treatment recommendations for adulthood...
- Management of phenylketonuria in Europe: survey results from 19 countriesNenad Blau
University Children s Hospital, Zurich, Switzerland
Mol Genet Metab 99:109-15. 2010..There is an urgent need to pool long-term data in PKU registries in order to generate an evidence-based international guideline...
- Development of intelligence in early treated phenylketonuriaP Burgard
Department of General Paediatrics, University of Heidelberg, Germany
Eur J Pediatr 159:S74-9. 2000..For historical reasons there is no research on IQ development of early treated patients in middle or late adulthood, and it remains unclear whether older age groups might carry new risks...
- Phenylketonuria in adulthood: a collaborative studyR Koch
Children s Hospital Los Angeles, Department of Pediatrics, Keck School of Medicine, University of Southern California, 90027, USA
J Inherit Metab Dis 25:333-46. 2002..Early dietary discontinuation for subjects with PKU is associated with poorer outcomes not only in intellectual ability, but also in achievement test scores and increased rates of medical and behavioural problems...
- Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseasesAngel L Pey
Department of Biomedicine, University of Bergen, Bergen, Norway
Am J Hum Genet 81:1006-24. 2007..However, additional factors must be considered that may contribute to the patient phenotype, such as possible effects on catalysis and interindividual differences in physiological and metabolic processes...
- Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)Eva Simon
Department of General Pediatrics, Heinrich Heine University, Duesseldorf, Germany
Health Qual Life Outcomes 6:25. 2008..Aim of the study was to analyse quality of life and social status, which are important parameters for an overall estimation of success of treatment apart from intellectual outcome in adult PKU patients...
- Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesisMarieke Hoeksma
Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Section of Metabolic Diseases, P O Box 30 001, 9700 RB Groningen, The Netherlands
Mol Genet Metab 96:177-82. 2009..Hence, we speculate that it is important to continue dietary treatment into adulthood, aiming at plasma phenylalanine concentrations <600-800micromol/l...
- Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuriaJ Pietz
Department of Pediatric Neurology, University of Heidelberg, D 69120 Heidelberg, Germany
J Clin Invest 103:1169-78. 1999....
- Randomised controlled trial of tyrosine supplementation on neuropsychological performance in phenylketonuriaM L Smith
Department of Psychology, University of Toronto, Mississauga, Ontario, Canada
Arch Dis Child 78:116-21. 1998..To test the efficacy of tyrosine supplementation, as an adjunct to dietary treatment, on neuropsychological test performance in individuals with phenylketonuria...
- Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instabilitySøren W Gersting
Department of Molecular Pediatrics, Children s Research Center, Dr von Hauner Children s Hospital, Ludwig Maximilians University, 80337 Munich, Germany
Am J Hum Genet 83:5-17. 2008..Thus, PKU has evolved from a model of a genetic disease that leads to severe neurological impairment to a model of a treatable protein-folding disease with loss of function...
- Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutationsHeidi Erlandsen
Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
Proc Natl Acad Sci U S A 101:16903-8. 2004..Of fundamental importance is the observation that BH4 appears to increase Phe catabolism if at least one of the two heterozygous mutations has any residual activity remaining...
- The reality of dietary compliance in the management of phenylketonuriaAnita MacDonald
Birmingham Children s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
J Inherit Metab Dis 33:665-70. 2010....
- Meta-analysis of neuropsychological symptoms of adolescents and adults with PKUJ J Moyle
School of Psychology, The University of Western Australia, Perth, Australia
Neuropsychol Rev 17:91-101. 2007..Future research utilizing an integrative approach and detailed analysis of specific cognitive domains will assist both the scientist and clinician, and ultimately the patient...
- Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formationJoão Leandro
Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N 5009 Bergen, Norway
Biochim Biophys Acta 1812:106-20. 2011....
- Remarkable differences: the course of life of young adults with galactosaemia and PKUA M Bosch
Department of Pediatrics, Academic Medical Center, University of Amsterdam, G8205, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
J Inherit Metab Dis 32:706-12. 2009..We conclude that it is essential that parents and clinicians encourage children with galactosaemia to participate in peer-related activities in order to stimulate social performance, which may result in a more normal CoL...
- Executive functioning and speed of processing in phenylketonuriaShelley Channon
Department of Psychology, University College London, and Department of Metabolic Medicine, National Hospital for Neurology and Neurosurgery, University College London Hospitals, United Kingdom
Neuropsychology 19:679-86. 2005..A cognitive slowing account may prove more informative in adults with PKU, but more evidence is needed. The findings suggest that continuous dietary management is a fairly successful strategy in terms of cognitive outcome for adults...
- The truth of treating patients with phenylketonuria after childhood: the need for a new guidelineF J van Spronsen
Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Centre of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
J Inherit Metab Dis 31:673-9. 2008..In addition, guidelines must address not only what has to be done but also how it can be done, thereby improving concordance with the recommendations for treatment and management...
- The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuriaA M Bosch
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
J Inherit Metab Dis 30:29-34. 2007..The results of this study demonstrate that although PKU is a chronic disease with the burden of strict dietary control, early and continuously treated patients with PKU can have a normal health-related quality of life and course of life...
- Executive functioning, memory, and learning in phenylketonuriaShelley Channon
Department of Psychology, University College London, London, England
Neuropsychology 18:613-20. 2004..Nor did they differ significantly on recall or recognition memory. Overall, the findings provided little support for the executive deficit hypothesis. A possible explanation in terms of slowed information processing speed is explored...
- Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuriaSkadi Beblo
Division of Metabolic Diseases and Nutrition, Dr von Haunersches Kinderspital, Ludwig Maximilians University, Munich, Germany
J Pediatr 150:479-84. 2007..To investigate effects of long-chain omega-3 polyunsaturated fatty acids (LC-PUFA) on motor skills in patients with phenylketonuria (PKU)...
- Fish oil supplementation improves visual evoked potentials in children with phenylketonuriaS Beblo
Division of Metabolic Diseases and Nutrition, Dr. von Haunersches Kinderspital, Munich, Germany
Neurology 57:1488-91. 2001..The authors conclude that omega-3 LC-PUFA are essential substrates for nervous system function even beyond infancy...
- Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanineR Matalon
Department of Pediatrics, University of Texas Medical Branch, Children s Hospital, Galveston, Texas, USA
J Inherit Metab Dis 30:153-8. 2007..Long-term studies will be needed to validate the acceptability, efficacy and safety of such treatment...
- Impaired glutamatergic synaptic transmission in the PKU brainA E Martynyuk
Department of Anesthesiology, University of Florida, Gainesville, FL, USA
Mol Genet Metab 86:S34-42. 2005....
- Monogenic traits are not simple: lessons from phenylketonuriaC R Scriver
DeBelle Laboratory for Biochemical Genetics, Montreal Children s Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3
Trends Genet 15:267-72. 1999....
- Does dietary DHA improve neural function in children? Observations in phenylketonuriaBerthold Koletzko
Division of Metabolic Diseases and Nutritional Medicine, Dr von Hauner Children s Hospital, University of Munich Medical Centre, Lindwurmstr 4, 80337 Munich, Germany
Prostaglandins Leukot Essent Fatty Acids 81:159-64. 2009..Since PKU children are generally healthy and have normal energy and fatty acid metabolism, these data lead us to conclude that childhood populations in general require preformed n-3 LC-PUFA to achieve optimal neurological function...
- Executive function in early-treated phenylketonuria: profile and underlying mechanismsShawn E Christ
Department of Psychological Sciences, 210 McAlester Hall, University of Missouri, Columbia, MO 65203, USA
Mol Genet Metab 99:S22-32. 2010..In closing, this review identifies remaining unanswered questions and future avenues for research...
- Effects of phenylalanine on the survival and neurite outgrowth of rat cortical neurons in primary cultures: possible involvement of brain-derived neurotrophic factorDuan Li
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kong Jiang Rd, Shanghai 200092, China
Mol Cell Biochem 339:1-7. 2010..Considering the important role of BDNF in normal brain development and function, these L: -Phe-induced changes in BDNF in PKU brain may be a critical element of the neurological symptoms of PKU...
- Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuriaH Serap Kalkanoglu
Department of Paediatrics, Nutrition and Metabolism Unit, Hacettepe University, Ankara, Turkey
Acta Paediatr 94:1218-22. 2005..To evaluate the effects of phenylalanine (Phe)-free essential amino acid (AA) tablets enriched in tyrosine and tryptophan on the performance of intellectually disabled adult patients with untreated phenylketonuria (PKU)...
- Phenylketonuria: a 21st century perspectiveFrancjan J van Spronsen
Beatrix Children s Hospital, University Medical Center of Groningen, PO Box 30 001, 9700 RB Groningen, The Netherlands
Nat Rev Endocrinol 6:509-14. 2010..This Review provides an overview of the history of phenylketonuria, the challenges of treatment today and the treatment possibilities in the near future...
- Phenylalanine-restricted diet should be life long. A case report on long-term follow-up of an adolescent with untreated phenylketonuriaJoav Merrick
National Institute of Child Health and Human Development, Division of Community Health, Department of Family Medicine, Ben Gurion University, Beer Sheva, Israel
Int J Adolesc Med Health 15:165-8. 2003..In general, this patient's quality of life had increased. We therefore recommend life-long treatment with phenylalanine restricted diet for persons with previously treated, and also for those with untreated, phenylketonuria...
- Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuriaR Sharman
Institute of Health and Biomedical Innovation, Queensland University of Technology, Queensland, Australia
Clin Genet 75:169-74. 2009..Correlations between EF and biochemistry in children with PKU showed that participant's lifetime phe : tyr ratio was positively and significantly associated with EF impairment, more so than phe-only measures...
- Quality of life in noncompliant adults with phenylketonuria after resumption of the dietM Bik-Multanowski
Chair of Pediatrics, Jagiellonian University, ul Wielicka 265, 30 663, Krakow, Poland
J Inherit Metab Dis 31:S415-8. 2008..The aim of our study was to assess the change in quality of life in adult patients returning to the diet and to define the reasons for failure in diet resumption...
- Phenylketonuria: dietary and therapeutic challengesM Giovannini
Department of Pediatrics, San Paolo Hospital, University of Milan, Milan, Italy
J Inherit Metab Dis 30:145-52. 2007..New strategies--such as supply of tetrahydrobiopterin--need to be optimized in terms of targets, patients and expected outcomes...
- Situational analysis of dietary challenges of the treatment regimen for children and adolescents with phenylketonuria and their primary caregiversCarolyn E Ievers-Landis
Division of Behavioral Pediatrics and Psychology, Department of Pediatrics, Rainbow Babies and Children s Hospital, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106 6038, USA
J Dev Behav Pediatr 26:186-93. 2005..05)...
- A study of gene expression profiles of cultured embryonic rat neurons induced by phenylalanineHuiwen Zhang
Department of Endocrinology and Genetic Metabolism, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Second Medical University, Shanghai 200092, People s Republic of China
Metab Brain Dis 20:61-72. 2005..Our study also suggests that the excitatory neurotransmitter glutamate may play a role in the neural pathology of PKU...
- Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in JapanK Aoki
Department of Research Development, Aiiku Maternal and Child Health Center, 5 6 8 Minami, Minato ku, Tokyo, 106 8580, Japan
J Inherit Metab Dis 30:608. 2007..Further, the evaluations of the effectiveness of the two initiatives as well as the treatment guidelines issued should be based on outcome data, which depend on the continuation of the follow-up study of patients with PKU...
- Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centersA Belanger-Quintana
Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal, Madrid, Spain
Mol Genet Metab 105:390-4. 2012..To gather exploratory data on the costs and reimbursement of special dietary foods used in the management of phenylketonuria (PKU) from ten international specialist PKU centers...
- Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuriaChristian Landvogt
Department of Nuclear Medicine, University of Mainz, Mainz, Germany
J Cereb Blood Flow Metab 28:824-31. 2008..The linear graphical analysis shows reduced k3S in striatum, indicating reduced DOPA decarboxylase activity...
- Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?H Gokmen Ozel
Faculty of Health Sciences, Department of Nutrition and Dietetics, Hacettepe University, 06100, Ankara, Turkey
J Inherit Metab Dis 31:S213-7. 2008..We would like to implement an easier method of measuring Phe exchanges to improve dietary knowledge in the mothers...
- "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trialAmber E Ten Hoedt
Department of Pediatrics, Academic Medical Center AMC, University of Amsterdam, AZ Amsterdam, The Netherlands
Orphanet J Rare Dis 6:48. 2011..We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance...
- PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swingsKaren Anjema
Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, Section of Metabolic Diseases, The Netherlands
Mol Genet Metab 104:231-4. 2011..The interviewer as well as the respondents were blinded with regard to the phenylalanine concentration...
- Rapid screening of phenylketonuria using a CD microfluidic deviceBin Chen
Department of Laboratory Medicine, Guangzhou First Municipal People s Hospital, Affiliated to Guangzhou Medical College, Guangzhou, Guangdong 510180, China
J Chromatogr A 1218:1907-12. 2011..Results of the hybridization assay were confirmed by DNA sequencing. This CD-chip based hybridization assay features short analysis time, simple operation and low cost, thus has the potential to serve as the tool for PKU screening...
- Blood phenylalanine control in phenylketonuria: a survey of 10 European centresK Ahring
Department of PKU, Kennedy Centre, Glostrup, Denmark
Eur J Clin Nutr 65:275-8. 2011..Only limited data are available on the blood phenylalanine (Phe) concentrations achieved in European patients with phenylketonuria (PKU) on a low-Phe diet...
- Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuriaH J Vernon
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Mol Genet Metab 100:229-33. 2010..Even in patients who were not considered to be responders, the introduction of sapropterin provided a tool to reconnect with patients and re-introduce beneficial dietary measures...
- Follow up of phenylketonuria patientsM Demirkol
Div Nutrition and Metabolism, Children s Hospital, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
Mol Genet Metab 104:S31-9. 2011....
- Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increaseIlaria Roato
Center for Experimental Research and Medical Studies, A O U San Giovanni Battista, Torino, Italy
PLoS ONE 5:e14167. 2010..Phenylketonuria (PKU) is a rare inborn error of metabolism often complicated by a progressive bone impairment of uncertain etiology, as documented by both ionizing and non- ionizing techniques...
- 5-Hydroxytryptophan during critical postnatal period improves cognitive performances and promotes dendritic spine maturation in genetic mouse model of phenylketonuriaDiego Andolina
Dipartimento di Psicologia and Centro Daniel Bovet, Sapienza University, Rome, Italy
Int J Neuropsychopharmacol 14:479-89. 2011....
- PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) miceJennifer E Embury
Department of Biochemistry and Molecular Biology, PO Box 100245, College of Medicine, University of Florida, Gainesville, FL 32610, USA
Brain Res 1127:136-50. 2007....
- Glycomacropeptide, a low-phenylalanine protein isolated from cheese whey, supports growth and attenuates metabolic stress in the murine model of phenylketonuriaPatrick Solverson
Department of Nutritional Sciences, University of Wisconsin Madison, 53706, USA
Am J Physiol Endocrinol Metab 302:E885-95. 2012..In summary, GMP provides a physiological source of low-phe dietary protein that promotes growth and attenuates the metabolic stress induced by a high-phe casein or low-phe AA diet in PKU mice...
- Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?C Colomé
Servei de Bioquimica, Servei de Pediatria i Neuropediatria, Unitat Integrada, Hospital Sant Joan de Déu Hospital Clínic, Universitat de Barcelona, Barcelona, Spain
Clin Biochem 34:373-6. 2001....
- Future treatment strategies in phenylketonuriaFrancjan J van Spronsen
Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Centre of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
Mol Genet Metab 99:S90-5. 2010..These therapeutic strategies propose to treat PKU at various levels, including nutritional intake, gut, liver, and blood-brain barrier, and have the potential to further improve outcome in PKU...
- Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuriaDesiree A White
Department of Psychology, Washington University, St Louis, Missouri 63130, USA
J Int Neuropsychol Soc 8:1-11. 2002..Instead, deficits were observed only in older children, suggesting the presence of a developmental deficit rather than a developmental delay in the working memory of children with PKU...
- A preliminary report on dopamine system reactivity in PKU: acute effects of haloperidol on neuropsychological, physiological, and neuroendocrine functionsMonica Luciana
Department of Psychology, University of Minnesota, 75 East River Road, Minneapolis, MN 55455, USA
Psychopharmacology (Berl) 175:18-25. 2004..It has been suggested that these deficits are due to disruptions in the mesocortical dopamine system that projects to the prefrontal cortex...
- Protein substitutes for PKU: what's new?A MacDonald
The Children s Hospital, Birmingham, UK
J Inherit Metab Dis 27:363-71. 2004..These findings are important in rationalizing treatment strategies, improving patient compliance and overall in improving blood phenylalanine control...
- The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse modelChristineh N Sarkissian
Department of Human Genetics, McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
Hum Mutat 33:1464-73. 2012..By boosting blood Phe concentrations, and by BH(4) supplementation, we have revealed novel insights into the processing and regulation of the ENU1/2-mutant PAH...
- Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screeningHironori Nagasaka
Department of Pediatrics, Takarazuka City Hospital, 4 5 1 Kohama Cho, Takarazuka 665 0827, Japan
J Bone Miner Metab 29:737-43. 2011..001; males, P < 0.01). None of the bone parameters correlated significantly with serum phenylalanine or nutrient intake. PKU patients exhibited lower VD status and more rapid bone resorption despite normal calcium-VD intakes...
- Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patientsMartijn J de Groot
Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Mol Genet Metab 105:566-70. 2012..The etiology of reduced bone mineral density (BMD) in phenylketonuria (PKU) is unknown. Reduced BMD may be inherent to PKU and/or secondary to its dietary treatment...
- Nutritional management of PKU with glycomacropeptide from cheese wheyD M Ney
Department of Nutritional Sciences, University of Wisconsin, Madison, WI 53706, USA
J Inherit Metab Dis 32:32-9. 2009..In summary, food products made with GMP that is supplemented with limiting indispensable amino acids provide a palatable alternative source of protein that may improve dietary compliance and metabolic control of PKU...
- A study of bone turnover markers in prepubertal children with phenylketonuriaJadwiga Ambroszkiewicz
Department of Biochemistry, Institute of Mother and Child, ul Kasprzaka 17a, 01 211, Warsaw, Poland
Eur J Pediatr 163:177-8. 2004
- New approach to osteopenia in phenylketonuric patientsB Perez-Duenas
Department of Pediatrics Hospital Sant Joan de Déu Clínic, University of Barcelona, Spain
Acta Paediatr 91:899-904. 2002..The response to treatment with low-dose 1.25-(OH)2 vitamin D in patients with osteopenia was evaluated...
- "Hypotyrosinemia" in phenylketonuriaW B Hanley
Division of Clinical and Biochemical Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
Mol Genet Metab 69:286-94. 2000..8 micromol/L in infants, children, and adolescents in the literature review. Our data support the previously undocumented statements in the literature that plasma tyrosine levels are low in PKU...
- How practical are recommendations for dietary control in phenylketonuria?J H Walter
Willink Biochemical Genetic Unit, Royal Manchester Children s Hospital, Manchester M27 4HA, UK
Lancet 360:55-7. 2002..Our results indicate the difficulty of maintaining control in phenylketonuria, especially in older rather than younger children...
- Visual event-related potentials in children with phenylketonuriaR M Henderson
Department of Vision Sciences, Glasgow Caledonian University, Scotland
Acta Paediatr 89:52-7. 2000..The lack of differences in reaction time and P3 may be due to relatively good Phe control in children with PKU, or to the simplicity of the task. Suggestions are made for future ERP studies of PKU...
- STRUCTURAL UNDERSTANDING OF PHENYLKETONURIA (PKU)RAYMOND STEVENS; Fiscal Year: 2004..However it is important to determine the three dimensional structure of the full-length enzyme in order to fully understand the complex regulatory, catalytic, and stability issues associated with this family of enzymes. ..
- Genetic Reconstitution for PhenylketonuriaSavio Woo; Fiscal Year: 2006..abstract_text> ..
- Novel therapy for monoamine neurotransmitter deficiency in PKUCary O Harding; Fiscal Year: 2013..Our goal is to thoroughly evaluate these novel therapeutic approaches in Pahenu2 mice and to choose specific interventions for a future clinical trial in humans with PKU. ..
- Structural determinants of DTI observations in developing cortex and white matterChristopher D Kroenke; Fiscal Year: 2013..We will also use this experimental strategy to expand the capabilities of MRI to studies of earlier stages of brain development. ..
- Mechanisms of Neurotransmitter BiosynthesisPaul F Fitzpatrick; Fiscal Year: 2011....
- Augmented Phenylalanine Clearance by Muscles as Novel Therapy for PhenylketonuriaCary O Harding; Fiscal Year: 2013....
- Genomics and pharmacodynamics of statin-related rhabdomyolysisBruce M Psaty; Fiscal Year: 2013..For validation and translational work, co- investigators will use variants discovered by exome sequencing and replicated by our UK collaborators to conduct basic-science studies and evaluate their function. ..
- Engineering a Supplemental Phenylalanine Metabolic Pathway to Prevent mPKUStephen K Hunter; Fiscal Year: 2011..Furthermore, mice will be injected at different time points during pregnancy to evaluate the effects of "boosting" the phenylalanine metabolic pathway with the encapsulated cells at different stages of pregnancy on the pups. ..
- Glycolysis and Glutamate Storage into Synaptic VesiclesTetsufumi Ueda; Fiscal Year: 2010..It is hoped that knowledge gained from this research will be of use in creating a new approach to treatment of certain neurological and mental disorders. ..
- Tracking conformational states in enzyme catalysts using correlated X-ray scatterSebastian Doniach; Fiscal Year: 2013..CypA is the target of the widely used immunosuppressive cyclosporine. The HIV virus has been shown to use human cyclophilin during its final stages of viral replication. ..
- Mothers' Experience of Breastfeeding Infants with Phenylketonuria (PKU)SANDRA ANN BANTA WRIGHT; Fiscal Year: 2010....
- Dihydropteridine Reductase: Mechanism of Enzyme ActionRuel Z B Desamero; Fiscal Year: 2013..Regulation of DHPR became of interest with the discovery of atypical phenylketonuria, a neurological disorder, associated with a defect in tetrahydrobiopterin recycling. ..
- Regulation of Phenylalanine CatabolismPaul F Fitzpatrick; Fiscal Year: 2013..g., NMR and mass spectroscopy) with measurement of intrinsic rate constants for binding and catalysis in order to provide a more complete understanding of the allosteric regulation of phenylalanine hydroxylase. ..
- GENETIC STUDY OF AUTISTIC CHILDREN AND ADOLESCENTSEdwin Cook; Fiscal Year: 1999..The statistical methods have been chosen to reduce the change of a false positive result due to population stratification. ..
- The Glycoproteinoses: Second International Workshop on Advances in Pathogenesis aSTEVEN WALKLEY; Fiscal Year: 2007..Enhancement of research on the glycoproteinoses could provide important breakthroughs for the understanding and treatment of not only these diseases but for all genetic brain disorders. [unreadable] [unreadable] [unreadable]..
- DEVICE FOR RAPID SCREENING OF PLASMA HOMOCYSTEINEMALONNE DAVIES; Fiscal Year: 2002..What is demonstrated with homocysteine and phenylalanine is just the beginning of a large array of clinical analyzers based on microchip CEEC. ..
- IMPROVED METHODS OF ADENOVIRUS MEDIATED GENE TRANSFERRANDY EISENSMITH; Fiscal Year: 1999..Strategies that are successful in the treatment of the phenylketonuria present in the Pahenu2 mouse should also be applicable to the treatment of may other human metabolic diseases for which there are not representative animal models. ..
- BIOLOGICAL OXIDATION OF PHENYLALANINE BY NONHEME IRONJohn Caradonna; Fiscal Year: 2003..Kinetic and mechanistic experiments will be performed to identify the factors that control and regulate iron reduction. ..
- SFT FUNCTION AND REGULATION IN HEMOCHROMATOSISMarianne Wessling Resnick; Fiscal Year: 2003..abstract_text> ..
- TENTH INTERNATIONAL SYMPOSIUM ON PTERIDINESMadhavan Nair; Fiscal Year: 1992....
- Non-Viral Vectors for Liver Gene TransferFeng Liu; Fiscal Year: 2006..The therapeutic effects on the metabolic disease on phenylketonuria (PKU) mice, will be examined after the PAH gene transfer using the approach in this proposal. ..
- Non-Invasive Blood Phenylalanine MonitorABDEL HALIM GHANEM; Fiscal Year: 2002..abstract_text> ..
- MOUSE GENETIC MODELS FOR PHENYLKETONURIAWilliam Dove; Fiscal Year: 1993..We are making these mouse mutant models available to laboratories that specialize in the biochemical analysis of mammalian PKU. A number of biological and biomedical investigations become possible, given the salient mutant lines...
- Gene therapy for treatment of hemophilia AHans Herweijer; Fiscal Year: 2002..proposed commercial application: not available ..
- GENE THERAPY FOR TREATMENT OF HEMOPHILIA BHans Herweijer; Fiscal Year: 1999..PROPOSED COMMERCIAL APPLICATIONS: Vectors and methodology developed under this proposal should enable a gene therapy protocol for hemophilia B. ..
- AN ON-SITE STRIP TEST FOR SCREENING OF PHENYLKETONURIAAURORA DE CASTRO; Fiscal Year: 1990..The program is attractive as it offers the opportunity to enhance the standard of preventive medical care by providing accurate on-site answers. Because of its simplicity the test could be performed even in underdeveloped countries...
- BEHAVIORAL AND HORMONAL RESPONSES TO STRESS IN INFANTSMegan Gunnar; Fiscal Year: 1990..The long-term goals are to gain a better understanding of stress and coping in human infants...
- ON-SITE STRIP TEST FOR SCREENING OF GALACTOSEMIAAURORA DE CASTRO; Fiscal Year: 1990..This program is attractive as this test format will improve preventive medical care in the U.S. and could increase testing in underdeveloped countries...
- QUALITY CONTROL TOOL FOR NEWBORN SCREENING BLOOD SAMPLESBRIAN CRAINE; Fiscal Year: 2000..These beneficial effects will combine to assure the commercial success of this project in an arena that will represent a large health care market of 4 million patients per year in the United States alone. ..
- EFFECTS OF MATERNAL PHENYLKETONURIA ON PREGNANCY OUTCOMERichard Koch; Fiscal Year: 2000..Fetal morbidity, with subsequent problems in growth and development, associated with maternal PKU will be assessed in relation to maternal phenylalanine levels. ..
- HETEROLOGOUS GENE THERAPY FOR METABOLISMCary Harding; Fiscal Year: 2000..This study will provide important information regarding the choice of target tissue in gene therapy protocols. ..
- AAV-MEDIATED GENE THERAPY--INBORN ERRORS OF METABOLISMCary Harding; Fiscal Year: 1999..This proposal will directly compare the effectiveness of liver-directed versus muscle-directed gene therapy for IEMs. ..
- DETECTION OF SINGLE BASE MUTATIONS IN RNA MOLECULESFrances Smith; Fiscal Year: 1991..Results obtained in these studies should contribute greatly to a better understanding of the genetic heterogeneity of genetic diseases and should also help us to correlate mutations with specific clinical disease patterns...
- Gene therapy treatment for severe anemiaDavid Lewis; Fiscal Year: 2002..abstract_text> ..
- Structure and Function of Feedback Regulator ProteinToshie Yoneyama; Fiscal Year: 2004..The knowledge will provide insight into the altered metabolism of BH4 reported in phenylketonuria, Parkinson's disease, familial dystonia, and several vascular diseases. ..
- Grb 10 Isoforms and Insulin SignalingFeng Liu; Fiscal Year: 2007..The therapeutic effects on the metabolic disease, phenylketonuria (PKU), will be examined after the PAH gene transfer using the approach in this proposal. ..
- The development of monkey models for the study of autismLOREN MARTIN; Fiscal Year: 2005..abstract_text> ..
- PATHOPHYSIOLOGY OF PKUCHARISSA DYER; Fiscal Year: 2001..The investigator will employ histochemical, immunohistochemical, molecular, and biochemical techniques to better understand the pathophysiology of PKU, and ultimately lead to the development of additional therapies for PKU. ..
- SEROTONIN RECEPTORS IN PHENYLKETONURIC RATSJustus Ike; Fiscal Year: 2000..The findings of this work may contribute toward an understanding of the mechanisms involved in this disease. ..
- National PKU Alliance 2014 &2016 Conference - Scientific ExchangeCHRISTINE SCHLEGEL BROWN; Fiscal Year: 2013..Funding is requested to assist with the implementation of the Scientific Exchange portion of the overall conference. ..
- NEONATAL BIOCHEMICAL DISTURBANCES AND ADULT COGNITIONBarbara Strupp; Fiscal Year: 1990..Second, determining the pathogenesis of HP-induced cognitive dysfunction is critical for improving the treatment of phenylketonuria, a genetic disease that produces both HP and permanent mental retardation...
- Intravenous non-viral gene therapy for phenylketonuria (PKU)Cary Harding; Fiscal Year: 2006..co-administration of 3 separate plasmid vectors encoding single genes. These preclinical trials will form the basis for the development of future clinical trials in humans with PKU. [unreadable] [unreadable] [unreadable] [unreadable]..
- AAV2/8 vector-mediated liver gene therapy for phenylketonuria (PKU)Cary Harding; Fiscal Year: 2009..We propose that lessons learned from the treatment of murine PKU will ultimately be applicable to the treatment of human PKU and other allied IEM. ..
- Stem Cell-Mediated Liver Repopulation for Murine PKUCary Harding; Fiscal Year: 2006..The overall goal of the project is to explore HSC-mediated liver repopulation as treatment for rare inborn errors of metabolism using murine PKU as a model system. [unreadable] [unreadable] [unreadable]..
- Phenylalanine Hydroxylase Deficiency: Response to BH4Reuben Matalon; Fiscal Year: 2002..Treatment with BH4 should lead to a better outcome for PKU patients and for maternal PKU. ..
- KNOCKOUT MODEL FOR CANAVAN DISEASEReuben Matalon; Fiscal Year: 2001..5) The knock-out mouse will be used in future studies for determining the metabolic role of NAA in brain, for experimentation with enzyme therapy and gene therapy. ..
- RESPONSE OF PHENYLKETONURIA TO TETRAHYDROBIOPTERIN (BH4)Reuben Matalon; Fiscal Year: 2007..Abstract Not Provided ..
- THE CARNITINE TRANSPORTER IN HUMAN DISEASENicola Longo; Fiscal Year: 2010....
- EXPANDED NEWBORN SCREENING FOR METABOLIC DISORDERSSusan Waisbren; Fiscal Year: 2006..Primary data from parent interviews and the New England Newborn Screening Program, as well as secondary data from published reports and a panel of experts will be used as inputs to the cost-effectiveness model. [unreadable] [unreadable]..
- Anaplerotic therapy in Propionic AcidemiaNicola Longo; Fiscal Year: 2008..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. [unreadable] [unreadable] [unreadable]..
- Genotype Analysis for Diagnosis of Urea Cycle DisordersSteven Dobrowolski; Fiscal Year: 2007..The proposed assay panels provide a means to readily assess gene that are well established to contribute to hyperammonemia. [unreadable] [unreadable] [unreadable]..
- FilmArray-A Closed System for Multi-Pathogen ScreeningSteven Dobrowolski; Fiscal Year: 2005..Pouches are designed to assay for candidate infectious agents consistent with clinical presentation. ..
- Dietary Control of PKU with Glycomacropeptide from WheyDenise Ney; Fiscal Year: 2007..Data will help plan an outpatient clinical trial to determine if ingestion of a low-phe GMP diet will improve dietary adherence and metabolic control. ..