Search for dissertations about: "phenylalanine hydroxylase"

Found 3 swedish dissertations containing the words phenylalanine hydroxylase.

  2. 1. X-ray characterization of PaPheOH, a bacterial phenylalanine hydroxylase

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

    Abstract : 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. READ MORE

  4. 2. Pteridine dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type 1

    Author : Olov Ekwall; Uppsala universitet; []
    Keywords : Medical sciences; APS I; alopecia; autoantigen; cDNA; malabsorption; phenylalanine hydroxylase; pteridine; tryptophan hydroxylase; tyrosine hydroxylase; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

    Abstract : Autoimmune polyendocrine syndrome type I (APS) is a monogenous, recessively inherited disease characterised by endocrine and non-endocrine autoimmune manifestations. One fifth of APS I patients suffer from periodic intestinal dysfunction with varying degrees of malabsorbtion, steatorrhea and constipation. READ MORE

  5. 3. 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