Search for dissertations about: "Cystinuria"

Found 4 swedish dissertations containing the word Cystinuria.

  2. 1. Molecular genetic studies on cystinuria

    Author : Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

    Abstract : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. READ MORE

  4. 2. Clinical studies on cystinuria : With special reference to treatment with tiopronin

    Author : Åke Lindell; Bo G. Danielson; Linköpings universitet; []
    Keywords : MEDICINE; MEDICIN;

    Abstract : Cystinuria is an inherited disorder of the renal tubular transport of cystine and the dibasic amino acids across cell membranes. Defective renal tubular reabsorption causes a greatly increased urinary excretion of thepoorly soluble cystine, which in turn results in the formation of renal stones. READ MORE

  5. 3. Clinical and genetic studies on patients with cystinuria

    Author : Erik Fjellstedt; Martti Ala-Opas; Linköpings universitet; []
    Keywords : MEDICINE; MEDICIN;

    Abstract : Cystinuria is a genetic disorder with autosomal recessive inheritance. It is caused by a defective proximal tubular reabsorbtion of cystine and the dibasic amino acids. The low urinary solubility of cystine causes a life-long stone disease, contributing to about 1% of all urinary stones in adults. READ MORE

  6. 4. Pharmacokinetics of 2-mercaptopropionylglycine (Tiopronin) in man

    Author : Margaretha S. Carlsson; Per Sjöström; Linköpings universitet; []
    Keywords : MEDICINE; MEDICIN;

    Abstract : 2-Mercaptopropionylglycine (2-MPG, tiopronin) has been used successfully in the treatment of cystinuria despite the lack of knowledge of its pharmacokinetics. Therefore methods based on high-performance liquid chromatography and fluorometric detection were developed for quantitative analysis. READ MORE