Log in

Relevant bibliographies by topics / PKU / Phenylketonuria / Dissertations / Theses

To see the other types of publications on this topic, follow the link: PKU / Phenylketonuria.

Dissertations / Theses on the topic 'PKU / Phenylketonuria'

Author: Grafiati

Published: 4 June 2021

Last updated: 2 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 26 dissertations / theses for your research on the topic 'PKU / Phenylketonuria.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

Abstract:

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, and other styles

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/.

Full text

Abstract:

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, and other styles

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.

Full text

Abstract:

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, and other styles

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/.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

Abstract:

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, and other styles

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.

Full text

Abstract:

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, and other styles

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.

Full text

Abstract:

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, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

Abstract:

<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, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

Abstract:

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, and other styles

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.

Full text

Abstract:

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, and other styles

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/.

Full text

Abstract:

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, and other styles

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.

Full text

Abstract:

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, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

Abstract:

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, and other styles

18

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

Full text

Abstract:

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, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

Abstract:

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, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

Abstract:

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, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!