Sökning: "Erik Fjellstedt"

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1. 1. Clinical and genetic studies on patients with cystinuria

   Författare :Erik Fjellstedt; Martti Ala-Opas; Linköpings universitet; []
   Nyckelord :MEDICINE; MEDICIN;

   Sammanfattning : 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. LÄS MER