Sökning: "Lotta Harnevik"

Hittade 1 avhandling innehållade orden Lotta Harnevik.

  1. 1. Molecular genetic studies on cystinuria

    Författare :Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER