Einloggen

Thematische Bibliographien / PKU / Phenylketonuria / Dissertationen

Um die anderen Arten von Veröffentlichungen zu diesem Thema anzuzeigen, folgen Sie diesem Link: PKU / Phenylketonuria.

Dissertationen zum Thema „PKU / Phenylketonuria“

Autor: Grafiati

Veröffentlicht am 4. Juni 2021

Zuletzt aktualisiert am 2. Februar 2022

Geben Sie eine Quelle nach APA, MLA, Chicago, Harvard und anderen Zitierweisen an

Wählen Sie eine Art der Quelle aus:

Machen Sie sich mit Top-26 Dissertationen für die Forschung zum Thema "PKU / Phenylketonuria" bekannt.

Neben jedem Werk im Literaturverzeichnis ist die Option "Zur Bibliographie hinzufügen" verfügbar. Nutzen Sie sie, wird Ihre bibliographische Angabe des gewählten Werkes nach der nötigen Zitierweise (APA, MLA, Harvard, Chicago, Vancouver usw.) automatisch gestaltet.

Sie können auch den vollen Text der wissenschaftlichen Publikation im PDF-Format herunterladen und eine Online-Annotation der Arbeit lesen, wenn die relevanten Parameter in den Metadaten verfügbar sind.

Sehen Sie die Dissertationen für verschiedene Spezialgebieten durch und erstellen Sie Ihre Bibliographie auf korrekte Weise.

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.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

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.

Der volle Inhalt der Quelle

Annotation:

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

APA, Harvard, Vancouver, ISO und andere Zitierweisen

3

Ambler, Olivia. "An investigation into parental well-being and child behaviour in Phenylketonuria (PKU)." Thesis, Cardiff University, 2017. http://orca.cf.ac.uk/104274/.

Der volle Inhalt der Quelle

Annotation:

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

APA, Harvard, Vancouver, ISO und andere Zitierweisen

4

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.

Der volle Inhalt der Quelle

Annotation:

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

APA, Harvard, Vancouver, ISO und andere Zitierweisen

5

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/.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

6

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.

Der volle Inhalt der Quelle

Annotation:

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

APA, Harvard, Vancouver, ISO und andere Zitierweisen

7

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.

Der volle Inhalt der Quelle

Annotation:

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

APA, Harvard, Vancouver, ISO und andere Zitierweisen

8

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.

Der volle Inhalt der Quelle

Annotation:

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

APA, Harvard, Vancouver, ISO und andere Zitierweisen

9

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.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

10

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.

Der volle Inhalt der Quelle

Annotation:

<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

APA, Harvard, Vancouver, ISO und andere Zitierweisen

11

Jones, Toni J. "Relational processing and executive function development in young children including children with PKU /." [St. Lucia, Qld.], 2004. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe18767.pdf.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

12

Turki, Abrar Mohammed. "Application of stable isotope tracers to examine phenylalanine metabolism and protein requirements in children with phenylketonuria (pku)." Thesis, University of British Columbia, 2015. http://hdl.handle.net/2429/53095.

Der volle Inhalt der Quelle

Annotation:

Phenylketonuria (PKU) is an inherited inborn error of phenylalanine (PHE) metabolism caused by deficiency of hepatic enzyme phenylalanine hydroxylase (PAH). Therefore, PHE accumulates in plasma leading to mental retardation and developmental delay. Kuvan® (Sapropterin dihydrochloride), a synthetic form of tetrahydrobiopterin (BH₄), has been shown to reduce plasma PHE levels in PKU, but not all patients respond to sapropterin treatment. The major mode of treatment remains nutritional management with dietary restriction of PHE and provision of sufficient protein. The dietary protein requirement

APA, Harvard, Vancouver, ISO und andere Zitierweisen

13

Carpenter, Katie. "Parenting a child with phenylketonuria (PKU) : an exploration of the psychological impact on parents and parenting experience." Thesis, University of Manchester, 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.694329.

Der volle Inhalt der Quelle

Annotation:

This thesis focused on the psychological impact and parental experience of caring for a child with an inherited metabolic disorder. Due to treatment advances and early identification, many children diagnosed with inherited metabolic disorders have a favourable prognosis as treatment can prevent many of the most severe consequences. This outcome, however, requires significant input from parents to prevent associated neurological and physical impairment by adhering to strict management regimes. Research has indicated that this is likely to have a psychological impact on parents, but little is kn

APA, Harvard, Vancouver, ISO und andere Zitierweisen

14

Durrer, Katherine Elaine. "Impact of a Genetically Engineered Probiotic Therapy and IGF-1 Genomics in the PAHenu2 Mouse Model of PKU." Thesis, University of North Texas, 2015. https://digital.library.unt.edu/ark:/67531/metadc822730/.

Der volle Inhalt der Quelle

Annotation:

Absence of functional phenylalanine hydroxylase results in phenylketonuria (PKU). Viable treatments remain few, expensive and secondary conditions such as osteopenia occur in most PKU patients. Objective 1: Given the recently described roles of gut microbes to aid host digestion, an orally administered genetically engineered probiotic as the delivery vehicle for enzyme replacement therapy was created. The engineered probiotic, pHENOMMenal, produced phenylalanine ammonia lyase with significant production of trans-cinnamate (phenylalanine cleavage product) in vitro and resulted in a reduction

APA, Harvard, Vancouver, ISO und andere Zitierweisen

15

Giugliani, Luciana. "Hiperfenilalaninemia por deficiência de fenilalanina hidroxilase : identificação de indivíduos responsivos à administração de tetrahidrobiopterina por via oral." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2009. http://hdl.handle.net/10183/19023.

Der volle Inhalt der Quelle

Annotation:

Introdução: A Hiperfenilalaninemia por deficiência de fenilalanina hidroxilase (HPAPAH) é um erro inato do metabolismo no qual ocorre aumento dos níveis séricos de fenilalanina (Phe). Estudos recentes, realizados em várias populações, demonstraram que pacientes com HPA-PAH podem apresentar redução das concentrações plasmáticas de Phe mediante a administração oral de tetrahidrobiopterina (BH4). Objetivo: Identificar em uma amostra de pacientes brasileiros com HPA-PAH aqueles que são responsivos à administração de BH4 por via oral. Métodos: Para um paciente ser incluído no estudo, era necessário

APA, Harvard, Vancouver, ISO und andere Zitierweisen

16

Berlepsch, Juliana Thamar von [Verfasser], and Berthold [Akademischer Betreuer] Koletzko. "Comparison of the physical health in adult patients with phenylketonuria (PKU) and healthy age-matched controls / Juliana Freiin von Berlepsch ; Betreuer: Berthold Koletzko." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2021. http://d-nb.info/1230754911/34.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

17

Kusáková, Iva. "Návrh komunikační strategie Národního sdružení fenylketonuriků a jiných DMP." Master's thesis, Vysoká škola ekonomická v Praze, 2015. http://www.nusl.cz/ntk/nusl-203792.

Der volle Inhalt der Quelle

Annotation:

The diploma thesis focuses on the National association of PKU and other inherited disorders. Within the theoretical part the non-profit sector is defined, the theoretical basis for marketing communication are determined and successful communication campaigns of non-profit organisations are introduced. The main goal of the diploma thesis is to suggest the communication strategy for the National association of PKU and other inherited disorders. The main goal of the diploma theses is supported by own research in the form of in-depth interviews and survey which were answered by PKU patients. Final

APA, Harvard, Vancouver, ISO und andere Zitierweisen

18

Canton, Marie. "Fonctions exécutives chez les enfants atteints de phénylcétonurie." Thesis, Angers, 2017. http://www.theses.fr/2017ANGE0024/document.

Der volle Inhalt der Quelle

Annotation:

En raison du risque de perturbation des fonctions exécutives (FE), les recommandations médicales préconisent un suivi systématique du développement neuropsychologique des enfants atteints de phénylcétonurie, diagnostiqués et traités précocement (PCU-TP). En revanche, des divergences existent quant aux modalités pratiques d’évaluation. Ce travail de thèse a pour objectif d’interroger la pertinence de différents outils d’évaluation des FE en regard de la compréhension du phénotype neuropsychologique de ces enfants. Il s’agit d’apporter des préconisations d'évaluation puis de les confronter aux r

APA, Harvard, Vancouver, ISO und andere Zitierweisen

19

Nee, Jens [Verfasser]. "Arterioskleroserisiko und Thrombozytenfunktion bei Patienten mit Phenylketonurie (PKU) / Jens Nee." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2009. http://d-nb.info/1027498159/34.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

20

Eckert, Ute [Verfasser]. "Compliance und psycho-sozio-ökonomischer Status von erwachsenen Patienten mit Phenylketonurie (PKU) / Ute Eckert." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1042658390/34.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

21

Weber, Linda [Verfasser], Karin [Akademischer Betreuer] Lange, and Gundula [Akademischer Betreuer] Ernst. "Entwicklung, Erprobung und Evaluation eines Gruppenschulungsprogramms für Familien von Kindern mit Phenylketonurie (PKU) : im Rahmen des Projektes: „Fit für ein besonderes Leben: modulares Schulungsprogramm für chronisch kranke Kinder und Jugendliche sowie deren Familien ‚ModuS’“ / Linda Weber. Forschungs- und Lehreinheit Medizinische Psychologie der Medizinischen Hochschule Hannover. Stoffwechselambulanz der Kinderklinik der Medizinischen Hochschule Hannover. Betreuer: Karin Lange ; Gundula Ernst." Hannover : Bibliothek der Medizinischen Hochschule Hannover, 2014. http://d-nb.info/1061106519/34.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

22

Gomes, Melanie Vieira. "Adequacy of protein intake in patients with Phenylketonuria according to European PKU guidelines." Bachelor's thesis, 2019. https://hdl.handle.net/10216/121543.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

23

Barbosa, Alexandra Catarina de Sousa. "Metabolic control in patients with Phenylketonuria (PKU): impact of phenylalanine titration for BH4 loading test." Bachelor's thesis, 2017. https://repositorio-aberto.up.pt/handle/10216/106928.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

24

Ziesch, Birgit. "Einsatz von Tetrahydrobiopterin bei Patienten mit Phenylketonurie: Unverändert gute Lebensqualität bei deutlich gesteigerter Phenylalanintoleranz." Doctoral thesis, 2012. https://ul.qucosa.de/id/qucosa%3A12003.

Der volle Inhalt der Quelle

Annotation:

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

APA, Harvard, Vancouver, ISO und andere Zitierweisen

25

Berlepsch, Juliana Thamar von [Verfasser]. "Comparison of the physical health in adult patients with phenylketonuria (PKU) and healthy age matched controls / vorgelegt von Juliana Thamar Freiin von Berlepsch." 2009. http://d-nb.info/99525320X/34.

Der volle Inhalt der Quelle

APA, Harvard, Vancouver, ISO und andere Zitierweisen

26

Costa, Ana Carolina Ramos. "Distinct strategies to overcome severe forms of PKU: The p.G46S as a model to identify small molecules modulators of protein aggregation and evaluation of an enzyme replacement approach using a nanoparticulate system." Master's thesis, 2017. http://hdl.handle.net/10451/34293.

Der volle Inhalt der Quelle

Annotation:

Tese de mestrado, Ciências Biofarmacêuticas, Universidade de Lisboa, Faculdade de Farmácia, 2017<br>This work explores distinct strategies to overcome phenylketonuria (PKU; OMIM 261600), the most common autosomal recessive disorder of amino acid metabolism caused by a deficiency of the hepatic human phenylalanine hydroxylase enzyme (hPAH; EC 1.14.16.1) and for which the available therapies rely mainly in a dietetic restriction. PKU is considered a conformational disease, with loss-of-function, where the normal balance between folding and degradation machineries (proteostasis) is displaced towa

APA, Harvard, Vancouver, ISO und andere Zitierweisen

Wir bieten Rabatte auf alle Premium-Pläne für Autoren, deren Werke in thematische Literatursammlungen aufgenommen wurden. Kontaktieren Sie uns, um einen einzigartigen Promo-Code zu erhalten!