Thematische Bibliographien / PKU / Phenylketonuria

Inhaltsverzeichnis

  1. Zeitschriftenartikel
  2. Dissertationen
  3. Bücher
  4. Buchteile
  5. Konferenzberichte

Auswahl der wissenschaftlichen Literatur zum Thema „PKU / Phenylketonuria“

Autor: Grafiati
Veröffentlicht am 4. Juni 2021
Zuletzt aktualisiert am 2. Februar 2022

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Zeitschriftenartikel zum Thema "PKU / Phenylketonuria"

1

Cabalska, Barbara, and Irena Nowaczewska. "187 Maternal Phenylketonuria/PKU/." Pediatric Research 28, no. 3 (1990): 308. http://dx.doi.org/10.1203/00006450-199009000-00211.

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Cleary, Maureen, and J. H. Walter. "Assessment of Adult Phenylketonuria." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 38, no. 5 (2001): 450–58. http://dx.doi.org/10.1177/000456320103800502.

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Phenylketonuria (PKU) has been detected on the newborn screening programme since the 1960s. Although it is recognised that dietary treatment is successful in avoiding the severe mental retardation associated with untreated PKU, the long-term outcome for adults remains unclear. The Medical Research Council recommends that the diet be followed for life. This paper discusses the relevance of the findings of neurological deterioration, neuropsychological problems and brain imaging in adults with PKU. It suggests an approach to follow-up for adults with PKU including neurological assessments, aware
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3

Mancilla, Viviana J., Allison E. Mann, Yan Zhang, and Michael S. Allen. "The Adult Phenylketonuria (PKU) Gut Microbiome." Microorganisms 9, no. 3 (2021): 530. http://dx.doi.org/10.3390/microorganisms9030530.

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Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is frequently supplemented with an amino acid formula to maintain proper nutrition. Little is known of the effects of these dietary interventions on the gut microbiome of PKU patients, particularly in adults. In this study, we sequenced the V4 region of the 16S rRNA gene from stool samples collected from adults with PKU (n = 11) and non-PKU controls (n = 21). Gut bacterial communities were characterized through measurements of diversity and taxa abundance. Additi
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Brown, Christine S., and Uta Lichter-Konecki. "Phenylketonuria (PKU): A problem solved?" Molecular Genetics and Metabolism Reports 6 (March 2016): 8–12. http://dx.doi.org/10.1016/j.ymgmr.2015.12.004.

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Hanley, W. B., J. T. R. Clarke, and W. Schoonheyt. "Maternal phenylketonuria (PKU) — A review." Clinical Biochemistry 20, no. 3 (1987): 149–56. http://dx.doi.org/10.1016/s0009-9120(87)80112-1.

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Sorbera, L. A., C. Dulsat, and A. I. Graul. "Therapeutic targets for phenylketonuria (PKU)." Drugs of the Future 45, no. 11 (2020): 813. http://dx.doi.org/10.1358/dof.2020.45.11.3233359.

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7

Valsasina, R., E. Riva, G. Biasucci, R. Longhi, and M. Giovannini. "Study on the Pteridines Metabolism in Children Affected by Hyperphenylalaninaemia and Phenylketonuria." Pteridines 1, no. 2 (1989): 129–31. http://dx.doi.org/10.1515/pteridines.1989.1.2.129.

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Summary Atypical phenylketonuria (PKU) is caused by tetrahydrobiopterin (BH4) deficiency. In Italy a systematic screening service for BH4 deficiency is not currently performed, therefore its real frequency is not known yet. We determined urinary excretion of biopterin (B) and neopterin (N) by HPLC in 74 phenylketonuric and hyperphenylalaninemic subjects, including all newborns with positive Guthrie's test for PKU since 1984. We found two patients with N and B urinary values above the classical PKU range. In these subjects we also performed a BH4 loading test that restored a normal plasma pheny
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Shedlovsky, A., J. D. McDonald, D. Symula, and W. F. Dove. "Mouse models of human phenylketonuria." Genetics 134, no. 4 (1993): 1205–10. http://dx.doi.org/10.1093/genetics/134.4.1205.

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Abstract Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of phenylalanine (PHE) to tyrosine. Although this inborn error of metabolism was among the first in humans to be understood biochemically and genetically, little is known of the mechanism(s) involved in the pathology of PKU. We have combined mouse germline mutagenesis with screens for hyperphenylalaninemia to isolate three mutants deficient in phenylalanine hydroxylase (PAH) activity and cross-reactive protein. Two of these have reduced PAH mRNA and display characteristic
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Feillet, François, and Shyue-Fang Battaglia-Hsu. "Sapropterin in the Treatment of Phenylketonuria." Clinical Medicine Insights: Therapeutics 2 (January 2010): CMT.S2721. http://dx.doi.org/10.4137/cmt.s2721.

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Sapropterin has recently been approved to treat hyperphenylalaninaemia in patients over 4 year-old with tetrahydrobiopterin (BH4)-responsive phenylketonuria (PKU) and in children and adults with BH4 deficiency. 1 The effectiveness of this treatment in BH4-responsive PKU patients has already been demonstrated in randomized, double-blind trials; 2 moreover, Sapropterin appears well tolerated in PKU patients. It is thus the first non-dietary treatment for patients with PKU demonstrated capable of lowering blood phenylalanine levels, and as a result, it is a promising treatment option for BH4 resp
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Said, Khadiga M., and Safaa F. Draz. "The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria." Evidence-Based Nursing Research 1, no. 4 (2020): 9. http://dx.doi.org/10.47104/ebnrojs3.v1i4.107.

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Context: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If PKU did not diagnose early in life or the affected children with PKU do not be compliant with the treatment regimen (food), it leads to severe cognitive or behavioral problems, seizures, and autistic symptoms.
 Aim: The current study aimed to evaluate the effect of empowerment program on nurses' management of children with phenylketonuria.
 Methods: Quasi-experimental research (one group pre/post-test) design was used to conduct this
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Dissertationen zum Thema "PKU / Phenylketonuria"

1

Seagraves, Nikki Jo. "Characterization of Cardiac Teratogenicity in a Mouse Model of Maternal Phenylketonuria." The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1345481951.

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2

Ziesch, Birgit. "Einsatz von Tetrahydrobiopterin bei Patienten mit Phenylketonurie." Doctoral thesis, Universitätsbibliothek Leipzig, 2013. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-117262.

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Background Tetrahydrobiopterin (BH4)-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 BH4. Subjects and methods Based on the review of neonatal BH4 test results and mutation analysis in 41 PKU patients, 19 were identified as potentially BH4-sensitive (9 females, 10 males, age 4–18 years). We analyzed phenylalanine (phe) concentrations in dried blood samples, nutrition protocols, and HRQoL questionnaires (KINDL®) beginning from 1 year before, during the first 42 d
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Ambler, Olivia. "An investigation into parental well-being and child behaviour in Phenylketonuria (PKU)." Thesis, Cardiff University, 2017. http://orca.cf.ac.uk/104274/.

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This thesis comprises three papers; a systematic review, empirical study and critical review. The systematic review aimed to identify the factors that are associated with well-being in parents who care for a child with PKU. Six electronic databases were searched (Scopus, PsycINFO, Medline, Embase, EBSCO Cinahl and Web of Science) of papers published between 1965 and November 2016. The search yielded 189 articles; 15 were included in the final review. Quality ratings revealed six studies scored within the ‘moderate’ range and nine within the ‘high’ range. Demographic variables were the most wid
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Medford, Emma. "Parental wellbeing and treatment adherence for children and adolescents with Phenylketonuria (PKU)." Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/parental-wellbeing-and-treatment-adherence-for-children-and-adolescents-with-phenylketonuria-pku(90e95c63-468a-4156-a4a9-b3f90e6f475f).html.

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Phenylketonuria is a rare genetic disorder that causes cognitive impairment unless treated with a strict, protein-restricted diet. Due to the challenges of treatment adherence, caring for a child with PKU may affect parental wellbeing, and many children and adolescents have poor metabolic control. The overall aim of the thesis was to examine influences on parental wellbeing and treatment adherence. Paper 1 is a systematic literature review of the demographic and psychosocial influences on blood phenylalanine concentration for children and adolescents with PKU. The aim was to identify factors t
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Hofman, Denise Leonne. "Dietary adherence in phenylketonuria (PKU) and effects on cognitive function and quality of life." Thesis, University of Leeds, 2018. http://etheses.whiterose.ac.uk/22610/.

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Lifková, Hana. "MARKETING ZAMĚŘENÝ NA PACIENTY S FENYLKETONURIÍ (PKU)." Master's thesis, Vysoká škola ekonomická v Praze, 2013. http://www.nusl.cz/ntk/nusl-198276.

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The master's thesis deals with inherited metabolic disorder phenylketonuria from a marketing point of view. The theoretical basis of this thesis points out to differences between the marketing mix in the pharmaceutical industry and other industries. Analysis of marketing mix of Nutricia company in relation to patients with phenylketonuria is based on these facts. Secondary and primary data are used in this master's thesis. There were several research methods used to get the information, such comparison and telephone interviews. The work provides insights and recommendations in relation to the
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Wesley, Katherine L. "Perceptions of Quality of Life, Peer Relationships, and Health Literacy in Adolescents with Phenylketonuria (PKU)." Scholar Commons, 2018. https://scholarcommons.usf.edu/etd/7381.

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Phenylketonuria (PKU) is a rare inborn error of metabolism that can be managed through lifelong treatment adherence to a restricted diet and supplemental medical formula (Vockley et al., 2014). Untreated PKU can result in severe intellectual disability, anxiety, depression, executive functioning deficits, and seizures (Cappelletti et al., 2013; Moyle et al., 2007). Even individuals who are continuously treated for PKU can experience high rates of anxiety and depression, executive functioning deficits, social difficulties, and lower full-scale IQ scores than their siblings and parents (Bosch et
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Mütze, Ulrike, Alena Gerlinde Thiele, Christoph Baerwald, Uta Ceglarek, Wieland Kiess, and Skadi Beblo. "Ten years of specialized adult care for phenylketonuria." Universitätsbibliothek Leipzig, 2016. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-205208.

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Background: Specialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten years after establishment of a coordinated transition process and specialised adult care for inherited metabolic diseases, adult PKU care was evaluated with respect to metabolic control, therapy satisfaction, life satisfaction, sociodemographic data, economical welfare as well as pregnancy outcome. Methods: All PKU patients transferred from paediatric to adult care between 2005
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Freiin, von Berlepsch Juliana. "Comparison of the physical health in adult patients with phenylketonuria (PKU) and healthy age-matched controls." Diss., lmu, 2009. http://nbn-resolving.de/urn:nbn:de:bvb:19-101667.

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Lundstedt, Gunilla. "Growing up with a Chronic Disease : A Survey of Children with PKU in Sweden." Doctoral thesis, Uppsala University, Department of Psychology, 2001. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1508.

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<p>Phenylketonuria (PKU) is an inborn, metabolic disease affecting the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Since 1965, all Swedish patients are treated with a diet from the neonatal period, while patients without treatment become severely mentally retarded. This thesis presents a recent survey of intelligence, adjustment, and coping among Swedish patients with PKU aged 8-19 years. In Study I the patients’ blood phenylalanine level was in accordance with treatment norms and they were normal in terms of intelligence and adjustment. The next study was a com
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Bücher zum Thema "PKU / Phenylketonuria"

1

Schuett, Virginia E. Low protein food list for PKU. National PKU News, 1995.

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Robert Guthrie--the PKU story: Crusade against mental retardation. Hope Pub. House, 1997.

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Schuett, Virginia E. National survey of treatment programs for PKU and selected other inherited metabolic diseases. U.S. Dept. of Health & Human Services, Public Health Service, Health Resources and Services Administration, Bureau of Maternal and Child Health and Resources Development, Office of Maternal and Child Health, 1990.

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Schuett, Virginia E. National survey of treatment programs for PKU and selected other inherited metabolic diseases. U.S. Dept. of Health & Human Services, Public Health Service, Health Resources and Services Administration, Bureau of Maternal and Child Health and Resources Development, Office of Maternal and Child Health, 1990.

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Bellenir, Karen. Diet and nutrition sourcebook: Basic consumer health information about dietary guidelines, recommended daily intake values, vitamins, minerals, fiber, fat, weight control, dietary supplements, and food additives; along with special sections on nutrition needs throughout life and nutrition for people with such specific medical concerns as allergies, high blood cholesterol, hypertension, diabetes, celiac disease, seizure disorders, phenylketonuria (PKU), cancer and eating disorders, and including reports on current nutrition research and source listings for additional help and information. 2nd ed. Omnigraphics, 1999.

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van Spronsen, Francjan J., and Robin H. Lachmann. Phenylketonuria and Hyperphenylalaninemia. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0012.

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Phenylketonuria (PKU) is the prototype treatable genetic disorder and most advanced countries have been performing newborn screening for more than 40 years. Institution of a low-protein diet early in life can reduce the concentration of phenylalanine in the blood and the brain, and prevent the severe learning and behavioral difficulties that were historically associated with PKU. Interestingly, as the brain matures it becomes resistant to the toxic effects of phenylalanine. The effects of high phenylalanine levels on the adult brain are a subject of active research, but, unlike the effects on
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The Pku Paradox A Short History Of A Genetic Disease. Johns Hopkins University Press, 2014.

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National Institutes of Health (U.S.), National Institute of Child Health and Human Development (U.S.), National Institutes of Health (U.S.). Office of Medical Applications of Research, and National Human Genome Research Institute (U.S.), eds. Report of the NIH Consensus Development Conference on Phenylketonuria (PKU): Screening and management. The Institutes, 2001.

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California. Primary Care and Family Health Division. Genetic Disease Branch., ed. Cost and availability of dietary treatment of phenylketonuria (PKU): Report of a national survey. The Branch, 1997.

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Adele, Diamond, and Society for Research in Child Development., eds. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. University of Chicago Press, 1997.

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Buchteile zum Thema "PKU / Phenylketonuria"

1

Güttler, F., and S. L. C. Woo. "Molecular Genetics of PKU." In Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia. Springer Netherlands, 1986. http://dx.doi.org/10.1007/978-94-009-4131-1_6.

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Imamura, Takuji, Haruo Shintaku, Tatsuo Nakajima, Yoshitomo Sawada, Gen Isshiki, and Toshiaki Oura. "Experimental Research on a New Treatment for Maternal Phenylketonuria(PKU)." In Advances in Experimental Medicine and Biology. Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-2960-6_57.

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Medford, Emma, Dougal Julian Hare, Katie Carpenter, Stewart Rust, Simon Jones, and Anja Wittkowski. "Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU)." In JIMD Reports. Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_23.

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Kohlschütter, A. "Phenylketonurie (PKU)." In Screening auf angeborene endokrine und metabole Störungen. Springer Vienna, 2001. http://dx.doi.org/10.1007/978-3-7091-6252-1_22.

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Burgard, P., and U. Wendel. "Hyperphenylalaninämie/ Phenylketonurie (PKU)." In Angeborene Stoffwechselkrankheiten bei Erwachsenen. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-45188-1_29.

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Ho, Gladys, Ian Alexander, Kaustuv Bhattacharya, et al. "The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness." In JIMD Reports. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_284.

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Schmidt, H., M. Mahle, P. Lutz, and H. Bickel. "Differentialdiagnose, Indikation zur diätetischen Behandlung und Verlaufsbeobachtung bei Phenylketonurie (PKU) und Hyperphenylalaninämie (HPA)." In Früherkennung in der Pädiatrie. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-83009-9_9.

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Wilke, B., M. Vidailhet, C. Guillemin, et al. "PLASMA AND ERYTHROCYTE SELENIUM (Se), GLUTATHIONE PEROXYDASE (GSH-Px), MALONDIALDEHYDE (MDA) AND PLASMA LIPID HYDROPEROXIDES (LH) AS A FUNCTION OF Se SUPPLEMENTATION IN 12 TREATED PHENYLKETONURIC (PKU) CHILDREN." In Selenium in Medicine and Biology, edited by Jean Nève and Alain Favier. De Gruyter, 1988. http://dx.doi.org/10.1515/9783110861990-059.

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Arn, P. H. "Phenylketonuria (PKU)." In Encyclopedia of the Neurological Sciences. Elsevier, 2014. http://dx.doi.org/10.1016/b978-0-12-385157-4.00077-4.

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Packman, Seymour. "Phenylketonuria (PKU)." In Encyclopedia of the Neurological Sciences. Elsevier, 2003. http://dx.doi.org/10.1016/b0-12-226870-9/00015-0.

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Konferenzberichte zum Thema "PKU / Phenylketonuria"

1

Jentsch, A., D. Straka, S. Ramminger, and L. Valentini. "Aktueller Versorgungszustand erwachsener Phenylketonurie (PKU) Patienten in Deutschland." In Ernährung – „Gewissheit“ im Fluss! Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1684889.

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