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(oasthouse urine disease)
6 results
  • Clinical phenotypes in kidney transport disorders. [Journal Article]
    Birth Defects Orig Artic Ser 1974; 10(4):118-26Bartsocas CS, Crawford JD
  • Approximately 20 inherited disorders of kidney transport occurring in man have so far been defined. Most of these diseases have characteristic clinical profiles. They can be divided into four groups: 1) the amino acid transport mutations which include the cystinurias, hyperdibasicaminoaciduria, Joseph syndrome, Hartnup disease, and the methionine malabsorption syndrome: 2) the sugar transport mut…
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