Sökning: "phenylketonuria"

Hittade 5 avhandlingar innehållade ordet phenylketonuria.

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

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

    Sammanfattning : 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. LÄS MER

  3. 2. Mental retardation in children : an epidemiological and etiological study of mentally retarded children born 1959-1970 in a northern Swedish county

    Författare :Hans K:son Blomquist; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Incidence; Prevalence; Etiology; CNS handicap; Fragile site X chromosome; Maternal phenylketonuria; Late introduced dietary treatment; Intrauterine irradiation;

    Sammanfattning : In an unselected series of mentally retarded children in the county of Västerbotten, Sweden, the annual incidence of children with severe mental retardation (SMR) (IQ < 50) and alive at the age of one year decreased from 5.3 per 1,000 in 1959 - 1963 to 3.1 per 1,000 in 1967 -1970. LÄS MER

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

    Författare :Annika Ohlsson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER

  5. 4. X-ray characterization of PaPheOH, a bacterial phenylalanine hydroxylase

    Författare :Fredrik Ekström; Uwe H. Sauer; Edward Hough; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biochemistry; PaPheOH; PheOH; PAH; phhA; phenylalanine hydroxylase; protein crystallography; a-actinin; microcrystal; ABD; CH-domain; Biokemi; Biochemistry; Biokemi; biokemi; Biochemistry;

    Sammanfattning : Many human diseases are associated with the malfunction of enzymes in the aromatic amino acid hydroxylase family, e.g. phenylketonuria (PKU), hyperphenylalaninemia (HPA), schizophrenia and Parkinson's disease. LÄS MER

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

    Författare :Raghuraman Chittoor Srinivasan; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER