Search for dissertations about: "PKU"

Showing result 1 - 5 of 9 swedish dissertations containing the word PKU.

  2. 1. Growing up with a Chronic Disease : A Survey of Children with PKU in Sweden

    Author : Gunilla Lundstedt; Philip Hwang; Uppsala universitet; []
    Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Psychology; adjustment; chronic disease; coping; intelligence; phenylketonuria; Psykologi; Psychology; Psykologi; klinisk psykologi; Clinical Psychology;

    Abstract : 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. READ MORE

  4. 2. Open-framework Structures Built by Inorganic Clusters : Synthesis and Characterization

    Author : Hong Chen; Junliang Sun; Xiaodong Zou; Thomas E Albrecht-Schmitt; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Open-framework; germanates; vanadoborates; aluminoborates; germanosilicates; crystal structure; hydrothermal synthesis; crystal X-ray diffraction; rotation electron diffraction; powder X-ray diffraction; Inorganic Chemistry; oorganisk kemi;

    Abstract : Novel open-framework germanates and vanadoborates, which are constructed from typical types of clusters, have been synthesized based on different strategies. The crystal structures are solved by using single crystal X-ray diffraction (SXRD) technique or by combined techniques. READ MORE

  5. 3. Human amnion epithelial stem cells as a therapy for liver disease

    Author : Raghuraman Chittoor Srinivasan; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Placenta-derived stem cells have been proposed as potential new treatments for acute and congenital liver diseases. Of all the different perinatal tissues, amnion membrane and isolated amnion epithelial cells have been shown to be an outstanding readily available source of multipotent stem cells. READ MORE

  6. 4. Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency

    Author : Annika Ohlsson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Phenylketonuria, galactosaemia and biotinidase deficiency were the first three inborn errors of metabolism to be included in the Swedish programme. This thesis describes these conditions with an emphasis on screening performance and disease-causing genetic variants in the patients. READ MORE

  7. 5. Down syndrome : Growth and endocrine impact

    Author : Åsa Myrelid; Jan Gustafsson; Göran Annerén; Ann-Christine Lindgren; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Down syndrome; growth; growth charts; body proportions; growth hormone; thyroid function; metabolism; body composition; cognition; motor development; Downs syndrom; tillväxt; tillväxtkurvor; kroppsproportioner; tillväxthormon; sköldkörtelfunktion; metabolism; kroppssammansättning; kognitiv förmåga; motorisk utveckling; Paediatric medicine; Pediatrisk medicin; pediatrik; Pediatrics;

    Abstract : Down syndrome (DS) is associated with psychomotor retardation, short stature and endocrine dysfunction. Statural growth is a well-known indicator of health. The growth in DS differs markedly from that of other children and there is a 20 cm reduction of final height as compared to target height. READ MORE